Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
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A novel COL4A5 mutation identified in a Chinese Han family using exome sequencingIdentification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia CongenitaIdentification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome SequencingIdentification 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 PRX variant in a Chinese family with congenital cataract by exome sequencing.Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy
P2860
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P2860
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
description
2014 nî lūn-bûn
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name
Identification of a novel COL4 ...... ndrome using exome sequencing.
@en
Identification of a novel COL4 ...... ndrome using exome sequencing.
@nl
type
label
Identification of a novel COL4 ...... ndrome using exome sequencing.
@en
Identification of a novel COL4 ...... ndrome using exome sequencing.
@nl
prefLabel
Identification of a novel COL4 ...... ndrome using exome sequencing.
@en
Identification of a novel COL4 ...... ndrome using exome sequencing.
@nl
P2093
P2860
P1476
Identification of a novel COL4 ...... ndrome using exome sequencing.
@en
P2093
Jingjing Xiao
Jinzhong Yuan
Xiaorong Li
Yongchang Tang
P2860
P2888
P304
P356
10.1007/S11033-014-3227-1
P577
2014-02-13T00:00:00Z