Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing
about
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review
P2860
Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing
description
2014 nî lūn-bûn
@nan
2014 թուականին հրատարակուած գիտական յօդուած
@hyw
2014 թվականին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Identification of two missense ...... rome by whole exome sequencing
@ast
Identification of two missense ...... rome by whole exome sequencing
@en
Identification of two missense ...... rome by whole exome sequencing
@nl
type
label
Identification of two missense ...... rome by whole exome sequencing
@ast
Identification of two missense ...... rome by whole exome sequencing
@en
Identification of two missense ...... rome by whole exome sequencing
@nl
prefLabel
Identification of two missense ...... rome by whole exome sequencing
@ast
Identification of two missense ...... rome by whole exome sequencing
@en
Identification of two missense ...... rome by whole exome sequencing
@nl
P2093
P2860
P3181
P1433
P1476
Identification of two missense ...... rome by whole exome sequencing
@en
P2093
Jiansheng Xie
Lingna Fei
Liyuan Chen
Shanshan Yu
Yujiao Tian
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0113914
P407
P577
2014-01-01T00:00:00Z