Tttttgttttttccttcttacagaaggcactaccctggacgccgcttgcaaacgcctgaagagaaggcagggtgttcccactttttcagaatgggaccaggccctacggccccaatagcagaagcttctctaacccaggactgctcccctcaattcctcccaatatgctgaccgacagctcgacctcacctgggggcggttccgccaggggatggcttaggaaaacctcaggaagagcagcccagcgagtgacg
Yüklə 378,14 Kb.
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IVS 47 (+ 324 bp) tgaca cagat atgta tgttg ttgtt atttt aagtc atcaa tttat tctaa tatgt agcca acgtt gggaa cttcg actgt gtcta tacat acaac aacaa taaaa ttcag tagtt aaata agatt ataca tcggt tgcaa ccctt gaagc ttctc actaa tattc aaatg aagac tttaa ttcta atcat atcaa atatg gtttc taaaa ctact ttgaa gattt aagag tgatt ataag tttac ttctg aaatt aagat tagta tagtt tatac caaag atttt gatga aactt ctaaa atgag tttat aagat tatct tttat ttcct tgttt tgata atgta tactt tttat tttgt ttgtt ttttt actag tactc aaata ttcta ataga aaata aagga acaaa actat tacat atgaa aaata aaaca aacaa aaaaa tgatc 6523 5 6540 6555 6570 6585 GCT GAA TTA GAA AAA CTT AAA GCT CAT CTT GGG CAT CAG TTG AGC ATG CAC TAT GAA TCC AAG ACC CGA CTT AAT CTT TTT GAA TTT CGA GTA GAA CCC GTA GTC AAC TCG TAC GTG ATA CTT AGG TTC TGG Ala Glu Leu Glu Lys Leu Lys Ala His Leu Gly His Gln Leu Ser Met His Tyr Glu Ser Lys Thr A E L E K L K A H L G H Q L S M H Y E S K T 2175 2180 2185 2190 2195 6600 6615 6630 6645 AAA GGC ACA GAA AAA ATT ATT GCT GAA AAT GAA AGG CTT CGT AAA GAA CTT AAA AAA gtatg acttt TTT CCG TGT CTT TTT TAA TAA CGA CTT TTA CTT TCC GAA GCA TTT CTT GAA TTT TTT catac tgaaa Lys Gly Thr Glu Lys Ile Ile Ala Glu Asn Glu Arg Leu Arg Lys Glu Leu Lys Lys K G T E K I I A E N E R L R K E L K K 2200 2205 2210 2215 tatga ctgat tataa ctttt gattt ttatt ttact taata cctct tggaa aaact ggaag tagat ccttg atgag atact gacta atatt gaaaa ctaaa aataa aatga attat ggaga acctt tttga ccttc atcta ggaac tactc agtgt ctgta aaggt agata ttaag agatt gagga attgt gtttc tatgc ctgct gtcat cacat tccac catga tcaca gacat ttcca tctat aattc tctaa ctcct taaca caaag atacg gacga cagta gtgta aggtg gtact aaaac attga taata aaagt taata cattt aggct gggca cggtg gctca cgcct gtaat cccag cactt tggga ttttg taact attat tttca attat gtaaa tccga cccgt gccac cgagt gcgga catta gggtc gtgaa accct IVS 48 (+ 417 bp) ctaaa tatat tcctc tgacc tcatt ttcgt gatct gttgt tctaa ttatt attgg ccata ttgct gcttt aaagg gattt atata aggag actgg agtaa aagca ctaga caaca agatt aataa taacc ggtat aacga cgaaa tttcc agaga tgttg aattt gttga aattt taatc agcat ttaga gcccc aggtt atttt tgttt tccaa tttgt aatga tctct acaac ttaaa caact ttaaa attag tcgta aatct cgggg tccaa taaaa acaaa aggtt aaaca ttact taatt ttgaa tacac tgaat ctatg agaac agtat tatgt tttct cataa aatac taatt agcat ttaat gatag attaa aactt atgtg actta gatac tcttg tcata ataca aaaga gtatt ttatg attaa tcgta aatta ctatc 6646 6660 6675 6690 6705 GAA ACT GAT GCT GCA GAG AAA TTA CGG ATA GCA AAG AAT AAT TTA GAG ATA TTA AAT GAG AAG ATG CTT TGA CTA CGA CGT CTC TTT AAT GCC TAT CGT TTC TTA TTA AAT CTC TAT AAT TTA CTC TTC TAC Glu Thr Asp Ala Ala Glu Lys Leu Arg Ile Ala Lys Asn Asn Leu Glu Ile Leu Asn Glu Lys Met E T D A A E K L R I A K N N L E I L N E K M 2216 2220 2225 2230 2235 6720 6735 6750 6765 ACA GTT CAA CTA GAA GAG ACT GGT AAG AGA TTG CAG TTT GCA GAA AGC AGA GGT CCA CAG CTT GAA TGT CAA GTT GAT CTT CTC TGA CCA TTC TCT AAC GTC AAA CGT CTT TCG TCT CCA GGT GTC GAA CTT Thr Val Gln Leu Glu Glu Thr Gly Lys Arg Leu Gln Phe Ala Glu Ser Arg Gly Pro Gln Leu Glu T V Q L E E T G K R L Q F A E S R G P Q L E 2240 2245 2250 2255 6780 6795 6810 6818 GGT GCT GAC AGT AAG AGC TGG AAA TCC ATT GTG GTT ACA AG gtagg aacag agttt taaac ttgta CCA CGA CTG TCA TTC TCG ACC TTT AGG TAA CAC CAA TGT TC catcc ttgtc tcaaa atttg aacat Gly Ala Asp Ser Lys Ser Trp Lys Ser Ile Val Val Thr Arg G A D S K S W K S I V V T R 2260 2265 2270 2273 caaag tttaa tcatt tcaaa ttttg gcatt gtttt aaaag acaac actat tctgg ataac ctggt ttctt cctga gtttc aaatt agtaa agttt aaaac cgtaa caaaa ttttc tgttg tgata agacc tattg gacca aagaa ggact tgaac agttt gtttg gttgt tgttt taaca taata ctttt tttct gttgt agtat tgttg gagac ttttt cttcc acttg tcaaa caaac caaca acaaa attgt attat gaaaa aaaga caaca tcata acaac ctctg aaaaa gaagg ttgaa atgtt taact tgttt aacct tgttt gggtg gcagg gcatg gaaca gtgta gagct ggggc tgggc gaagg aactt tacaa attga acaaa ttgga acaaa cccac cgtcc cgtac cttgt cacat ctcga ccccg acccg cttcc IVS 49 (+ 2655 bp) aatac ccaaa tcctt tattt tgatt gggcc atctg ttaat taggg atacc ttatc tcttg ccacc acttt ttaat ttatg ggttt aggaa ataaa actaa cccgg tagac aatta atccc tatgg aatag agaac ggtgg tgaaa aatta gctaa ataaa tatgt agcta aaact ttgac tagaa gaaac agtaa aataa gatat tcttg cttat tttta gtaca cgatt tattt ataca tcgat tttga aactg atctt ctttg tcatt ttatt ctata agaac gaata aaaat catgt gttat ttgaa ctgac tttta aatca gtgac ataaa ttatt tgcca tgtct atact ttttt tcctt atact tttag caata aactt gactg aaaat ttagt cactg tattt aataa acggt acaga tatga aaaaa aggaa tatga aaatc 6819 6825 6840 6855 6870 6885 A ATG TAT GAA ACC AAG TTA AAA GAA TTG GAA ACT GAT ATT GCC AAA AAA AAT CAA AGC ATT ACT GAC T TAC ATA CTT TGG TTC AAT TTT CTT AAC CTT TGA CTA TAA CGG TTT TTT TTA GTT TCG TAA TGA CTG Arg Met Tyr Glu Thr Lys Leu Lys Glu Leu Glu Thr Asp Ile Ala Lys Lys Asn Gln Ser Ile Thr Asp R M Y E T K L K E L E T D I A K K N Q S I T D 2273 2275 2280 2285 2290 2295 6900 6915 6930 6945 CTT AAA CAG CTT GTA AAA GAA GCA ACA GAG AGA GAA CAA AAA GTT AAC AAA TAC AAT GAA GAC CTT GAA TTT GTC GAA CAT TTT CTT CGT TGT CTC TCT CTT GTT TTT CAA TTG TTT ATG TTA CTT CTG GAA Leu Lys Gln Leu Val Lys Glu Ala Thr Glu Arg Glu Gln Lys Val Asn Lys Tyr Asn Glu Asp Leu L K Q L V K E A T E R E Q K V N K Y N E D L 2230 2305 2310 2315 6960 GAA CAA CAG gtaag taacg taatt tttct ttaca tgata aaata atgca taata tcgca agatg ttcct tgcat CTT GTT GTC cattc attgc attaa aaaga aatgt actat tttat tacgt attat agcgt tctac aagga acgta Glu Gln Gln E Q Q 2320
acaga atata tctat tttta cctga gataa ttctt ctggg tagat tgact tcccg tgggg taagt gggta aacga taagc cagaa acttt ggatc atcaa cgact tcatt ctttt cattc tccac atttt ctatc attaa atcat gtcag attcg gtctt tgaaa cctag tagtt gctga agtaa gaaaa gtaag aggtg taaaa gatag taatt tagta cagtc ctcta ttttc aaact atatc ctaaa tatga ccact tcttg gtatc ttgag acatc actac cagtc ttgtc caagc gagat aaaag tttga tatag gattt atact ggtga agaac catag aactc tgtag tgatg gtcag aacag gttcg IVS 50 (+ 647 bp) tgcca ttttg ttcac tgctg ttagc ctctg tgcct aggac aatgc cagtt atgca gtagt tactc aatac ttgtt acggt aaaac aagtg acgac aatcg gagac acgga tcctg ttacg gtcaa tacgt catca atgag ttatg aacaa gaatg aatgg tgaat agaac ataga aattt gccta tgcgt gcttt tgaaa accat atttt aatat tacgc tttgt cttac ttacc actta tcttg tatct ttaaa cggat acgca cgaaa acttt tggta taaaa ttata atgcg aaaca taaaa atgtg tatct ttata aatcc tcata tttcc atggc aaacc ttatc ttcta acttt tcatt gtcct caaag atttt tacac ataga aatat ttagg agtat aaagg taccg tttgg aatag aagat tgaaa agtaa cagga gtttc 6961 6975 6990 7005 7020 ATT AAG ATT CTT AAA CAT GTT CCT GAA GGT GCT GAG ACA GAG CAA GGC CTT AAA CGG GAG CTT CAA TAA TTC TAA GAA TTT GTA CAA GGA CTT CCA CGA CTC TGT CTC GTT CCG GAA TTT GCC CTC GAA GTT Ile Lys Ile Leu Lys His Val Pro Glu Gly Ala Glu Thr Glu Gln Gly Leu Lys Arg Glu Leu Gln I K I L K H V P E G A E T E Q G L K R E L Q 2321 2325 2330 2335 2340 7034 GTT CTT AG gtaca tcatg tattc atatg actac tttgt ttttt tcttt aaaaa aaaaa ttatt agttt ttata CAA GAA TC catgt agtac ataag tatac tgatg aaaca aaaaa agaaa ttttt ttttt aataa tcaaa aatat Val Leu Arg V L R 2345
atgag gctta acgat gttga tctct gttcg taaaa agctg aaatg acgga ttgtc cgaat aatcc aggaa taaag ttccc tctaa tgcta atcac tcttt ttcat aatac acact agaaa aaaag gataa accca actct aagtt tccag aaggg agatt acgat tagtg agaaa aagta ttatg tgtga tcttt ttttc ctatt tgggt tgaga ttcaa aggtc tttgt aattt agttt aaact tttct aagag catag aatga gttaa acctt agctt cccag aggaa aatac taatg aaaca ttaaa tcaaa tttga aaaga ttctc gtatc ttact caatt tggaa tcgaa gggtc tcctt ttatg attac IVS 51 (+ 78 bp) acttg caaat gccat caggt cagat attaa gaaaa acgtg aaggc ttttg tattc caggc ttttt gtttg agaat tgaac gttta cggta gtcca gtcta taatt ctttt tgcac ttccg aaaac ataag gtccg aaaaa caaac tctta ggtga cattg tagca ttgag agtaa atgtt tactt cgata aaggc tagct tgttc tgatt actgt acatc actag ccact gtaac atcgt aactc tcatt tacaa atgaa gctat ttccg atcga acaag actaa tgaca tgtag tgatc ttcat aagaa atgcc catat atttt atgaa gcaat atctg cttta ttttt ttaac acatt atcat tgtgt tctag aagta ttctt tacgg gtata taaaa tactt cgtta tagac gaaat aaaaa aattg tgtaa tagta acaca agatc 7035 7050 7065 7080 7095 A TTA GCT AAT CAT CAG CTG GAT AAA GAG AAA GCA GAA TTA ATC CAT CAG ATA GAA GCT AAC AAG GAC T AAT CGA TTA GTA GTC GAC CTA TTT CTC TTT CGT CTT AAT TAG GTA GTC TAT CTT CGA TTG TTC CTG Arg Leu Ala Asn His Gln Leu Asp Lys Glu Lys Ala Glu Leu Ile His Gln Ile Glu Ala Asn Lys Asp R L A N H Q L D K E K A E L I H Q I E A N K D 2345 2350 2355 2360 2365 7110 7125 7129 CAA AGT GGA GCT GAA AGC ACC ATA CCT G gtaa tgtat tttaa aaaac atgtt agcta ccccc aagtt GTT TCA CCT CGA CTT TCG TGG TAT GGA C catt acata aaatt ttttg tacaa tcgat ggggg ttcaa Gln Ser Gly Ala Glu Ser Thr Ile Pro Asp Q S G A E S T I P D 2370 2375 2377 tttga atttg ggttt gcctt ttttt ttttt ttttg gctca gattt ctgat cattg tctcc ctgta aaatc gaatt aaact taaac ccaaa cggaa aaaaa aaaaa aaaac cgagt ctaaa gacta gtaac agagg gacat tttag cttaa cctga taagc tttgg gtctt ttgtc tctct gtgct attaa tataa aaata ttccc atttt tctct ttgtg ttgtt ggact attcg aaacc cagaa aacag agaga cacga taatt atatt tttat aaggg taaaa agaga aacac aacaa tatac tatag agtag caagt accca agtgt tcttc tcttt gttct ccatc tgggt gttac agatt taatc acaat atatg atatc tcatc gttca tgggt tcaca agaag agaaa caaga ggtag accca caatg tctaa attag tgtta IVS 52 (+ 2729 bp) aatac ctagc acata cctct ttctg cctgc tatga aatta taata cttga tggag ggagg cagca ttaag tgttt ttatg gatcg tgtat ggaga aagac ggacg atact ttaat attat gaact acctc cctcc gtcgt aattc acaaa acatc ctgaa gtatt tcagc cataa catcc agtgt tttcc aggtt ctagg tttca taaaa tgtat ctctg ttctc tgtag gactt cataa agtcg gtatt gtagg tcaca aaagg tccaa gatcc aaagt atttt acata gagac aagag tagaa caaat ccatt acctt gaact cattc gtagt gggaa aaagc tgagt ctaat ttgta tgact ttttc aacag atctt gttta ggtaa tggaa cttga gtaag catca ccctt tttcg actca gatta aacat actga aaaag ttgtc 7130 7240 7155 7170 7185 AT GCT GAT CAA CTA AAG GAA AAA ATA AAA GAT CTA GAG ACA CAG CTC AAA ATG TCA GAT CTA GAA TA CGA CTA GTT GAT TTC CTT TTT TAT TTT CTA GAT CTC TGT GTC GAG TTT TAC AGT CTA GAT CTT Asp Ala Asp Gln Leu Lys Glu Lys Ile Lys Asp Leu Glu Thr Gln Leu Lys Met Ser Asp Leu Glu D A D Q L K E K I K D L E T Q L K M S D L E 2377 2380 2385 2390 2395 7200 7209 AAG CAG CAT TTG AAG gtaat attta attat atttt agtat cgttt tgtga aaaca gctgt tgaaa actat TTC GTC GTA AAC TTC catta taaat taata taaaa tcata gcaaa acact tttgt cgaca acttt tgata Lys Gln His Leu Lys K Q H L K 2400 2403 tttca ttacc atctt taact acgta tccta aaaaa ttcag taata acatc ttata tttga ccttt atatt gcaaa aaagt aatgg tagaa attga tgcat aggat ttttt aagtc attat tgtag aatat aaact ggaaa tataa cgttt gttaa ttatg ttcat ctgac tattc ctaac atatt agagt taaca aaaaa ttcag actca acata ggatt aagta caatt aatac aagta gactg ataag gattg tataa tctca attgt ttttt aagtc tgagt tgtat cctaa ttcat gtaaa tttat ttttt aattg taaca aatat atgcc attag tatgt tctta agttt tgggt cacat tggca acagt cattt aaata aaaaa ttaac attgt ttata tacgg taatc ataca agaat tcaaa accca gtgta accgt tgtca IVS 53 (+ 434 bp) actag aacac aactt acaga ataca taact ggact tgaca gttaa caact tagtt attta cactg tacaa tggaa tgatc ttgtg ttgaa tgtct tatgt attga cctga actgt caatt gttga atcaa taaat gtgac atgtt acctt caaag aaaaa tctta attct tctgc cttta ttgct gtatt tgacc attca ggaat acttt ggctt tcata tttac gtttc ttttt agaat taaga agacg gaaat aacga cataa actgg taagt cctta tgaaa ccgaa agtat aaatg aatta aatct ccttg ttcaa acgta aaata tgtat atttc ctata tgcaa ctttt aaaga taatg tttcc attag ttaat ttaga ggaac aagtt tgcat tttat acata taaag gatat acgtt gaaaa tttct attac aaagg taatc 7210 7215 7230 7245 7260 7275 GAG GAA ATA AAG AAG CTG AAA AAA GAA CTG GAA AAT TTT GAT CCT TCA TTT TTT GAA GAA ATT GAA CTC CTT TAT TTC TTC GAC TTT TTT CTT GAC CTT TTA AAA CTA GGA AGT AAA AAA CTT CTT TAA CTT Glu Glu Ile Lys Lys Leu Lys Lys Glu Leu Glu Asn Phe Asp Pro Ser Phe Phe Glu Glu Ile Glu E E I K K L K K E L E N F D P S F F E E I E 2404 2405 2410 2415 2420 2425 (1,2) insA 7290 7305 7320 7335 | GAT CTT AAG TAT AAT TAC AAG GAA GAA GTG AAG AAG AAT ATT CTC TTA GAA GAG AAG GTA AAA AAA CTA GAA TTC ATA TTA ATG TTC CTT CTT CAC TTC TTC TTA TAA GAG AAT CTT CTC TTC CAT TTT TTT Asp Leu Lys Tyr Asn Tyr Lys Glu Glu Val Lys Lys Asn Ile Leu Leu Glu Glu Lys Val Lys Lys D L K Y N Y K E E V K K N I L L E E K V K K 2430 2435 2440 2445
CTT TCA GAA CAA TTG GGA GTT GAA TTA ACT AGC CCT GTT GCT GCT TCT GAA GAG TTT GAA GAT GAA GAA AGT CTT GTT AAC CCT CAA CTT AAT TGA TCG GGA CAA CGA CGA AGA CTT CTC AAA CTT CTA CTT Leu Ser Glu Gln Leu Gly Val Glu Leu Thr Ser Pro Val Ala Ala Ser Glu Glu Phe Glu Asp Glu L S E Q L G V E L T S P V A A S E E F E D E 2450 2455 2460 2465 7410 7425 7440 7450 7460 7470 GAA GAA AGT CCT GTT AAT TTC CCC ATT TAC TAA aggtc accta taaac tttgt ttcat ttaac tattt CTT CTT TCA GGA CAA TTA AAG GGG TAA ATG ATT tccag tggat atttg aaaca aagta aattg ataaa Glu Glu Ser Pro Val Asn Phe Pro Ile Tyr ter E E S P V N F P I Y X 2470 2475 2479 7480 7490 7500 7510 7520 7530 7540 7550 attaa cttta taagt taaat atact tggaa ataag cagtt ctccg aactg tagta tttcc ttctc actac cttgt taatt gaaat attca attta tatga acctt tattc gtcaa gaggc ttgac atcat aaagg aagag tgatg gaaca
acctt tatac ttaga ttgga attct taata aataa aatta tatga aattt tcaac ttatt ataaa agtat atact tggaa atatg aatct aacct taaga attat ttatt ttaat atact ttaaa agttg aataa tattt tcata tatga
tgaag acttg ttaca gccat caaat aggca gtgag ctctg gtgaa tttct ctaca ttcat aatgc tttaa gtttt acttc tgaac aatgt cggta gttta tccgt cactc gagac cactt aaaga gatgt aagta ttacg aaatt caaaa
ttaaa gaata tgagg gtaaa ttcag caatt ttaag attta aaatt ggagt ttata tatac ttatt tatac atgtg aattt cttat actcc cattt aagtc gttaa aattc taaat tttaa cctca aatat atatg aataa atatg tacac
ttaag attct caaat cctat gatat ataca cagat gtaga catac acaca tatag gttat gaggt tgagc cgtat aattc taaga gttta ggata ctata tatgt gtcta catct gtatg tgtgt atatc caata ctcca actcg gcata
gtttt gttaa atatc tagca aaatt aaatt gagct taaac tattt aattt tgaaa attag tgaca ttaaa ttgtt caaaa caatt tatag atcgt tttaa tttaa ctcga atttg ataaa ttaaa acttt taatc actgt aattt aacaa
gtctt taaat tacca ctcag ttata gtgaa gagaa tccag ccttt gtcca agctt aggag cttac tatta cttat cagaa attta atggt gagtc aatat cactt ctctt aggtc ggaaa caggt tcgaa tcctc gaatg ataat gaata
gtttt tatgg ctaga gatta aaatt aattt gctgg ttttt aataa aattt tgaat aggta cttga aactg gaaaa caaaa atacc gatct ctaat tttaa ttaaa cgacc aaaaa ttatt ttaaa actta tccat gaact ttgac ctttt
ttcat ttctt cacaa atggt agaaa acata ttgat gtttc ataat gaaca gaaac cttga gatat tttta aatat aagta aagaa gtgtt tacca tcttt tgtat aacta caaag tatta cttgt ctttg gaact ctata aaaat ttata
ggtag aatat tcaag attag aatat aatga taaac taatt ttatt tgcat tttat acatc aaata ttata tcttt ccatc ttata agttc taatc ttata ttact atttg attaa aataa acgta aaata tgtag tttat aatat agaaa
gagtc taaca aattt ctgat tatct atttt taaaa aatga ttaaa caaac actta atatc aaagg cagag tcaca ctcag attgt ttaaa gacta ataga taaaa atttt ttact aattt gtttg tgaat tatag tttcc gtctc agtgt
tttgt tcagg ttcat gttga taata actgg tcttg aattc atgta agtat ctgga attgg ccagc ataag ccaag aaaca agtcc aagta caact attat tgacc agaac ttaag tacat tcata gacct taacc ggtcg tattc ggttc
atgat ggcga tggac ctgga aagag aaaaa aggta ttagc tttag catac agata ctatc ttcat tcact tagaa tacta ccgct acctg gacct ttctc ttttt tccat aatcg aaatc gtatg tctat gatag aagta agtga atctt
atatt tgagt gccca ctgtc tgcca ggtac tgggt aagac tccac tttat cttac tgttt ttttt tttag tgagc tataa actca cgggt gacag acggt ccatg accca ttctg aggtg aaata gaatg acaaa aaaaa aaatc actcg
(1) = (1) (2) = (2) (3) = (3) 1. den Hollander,A.I., Koenekoop,R.K., Yzer,S., Lopez,I., Arends,M.L., Voesenek,K.E., Zonneveld,M.N., Strom,T.M., Meitinger,T., Brunner,H.G., Hoyng,C.B., van den Born,L.I., Rohrschneider,K., Cremers,F.P. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. (2006) : 556-561. Am J Hum Genet. 79 . (3) 2. Sayer,J.A., Otto,E.A., O'toole,J.F., Nurnberg,G., Kennedy,M.A., Becker,C., Hennies,H.C., Helou,J., Attanasio,M., Fausett,B.V., Utsch,B., Khanna,H., Liu,Y., Drummond,I., Kawakami,I., Kusakabe,T., Tsuda,M., Ma,L., Lee,H., Larson,R.G., Allen,S.J., Wilkinson,C.J., Nigg,E.A., Shou,C., Lillo,C., Williams,D.S., Hoppe,B., Kemper,M.J., Neuhaus,T., Parisi,M.A., Glass,I.A., Petry,M., Kispert,A., Gloy,J., Ganner,A., Walz,G., Zhu,X., Goldman,D., Nurnberg,P., Swaroop,A., Leroux,M.R., Hildebrandt,F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (2006) : 674-681. Nat.Genet. 38. (6) 3. Valente,E.M., Silhavy,J.L., Brancati,F., Barrano,G., Krishnaswami,S.R., Castori,M., Lancaster,M.A., Boltshauser,E., Boccone,L., Al Gazali,L., Fazzi,E., Signorini,S., Louie,C.M., Bellacchio,E., Bertini,E., Dallapiccola,B., Gleeson,J.G. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (2006) : 623-625. Nat.Genet. 38. (6) Yüklə 378,14 Kb. Dostları ilə paylaş:
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