A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
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Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia CongenitaNovel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
P2860
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
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2014 nî lūn-bûn
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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2014 թվականի հուլիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@ast
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@en
type
label
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@ast
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@en
prefLabel
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@ast
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@en
P2093
P2860
P356
P1476
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
@en
P2093
Fengping Xu
Jingjing Xiao
Jinzhong Yuan
Liping Guan
Xiaofei Xiu
Xiong Deng
Zhaoyang Zeng
P2860
P304
P356
10.1155/2014/186048
P407
P50
P577
2014-07-06T00:00:00Z