Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
about
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.RET somatic mutations are underrecognized in Hirschsprung disease.Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
P2860
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Next-generation sequencing dis ...... saicism in the proband mother.
@ast
Next-generation sequencing dis ...... saicism in the proband mother.
@en
type
label
Next-generation sequencing dis ...... saicism in the proband mother.
@ast
Next-generation sequencing dis ...... saicism in the proband mother.
@en
prefLabel
Next-generation sequencing dis ...... saicism in the proband mother.
@ast
Next-generation sequencing dis ...... saicism in the proband mother.
@en
P2093
P2860
P356
P1476
Next-generation sequencing dis ...... saicism in the proband mother.
@en
P2093
Hiroki Kurahashi
Hiroyuki Awano
Hisahide Nishio
Ichiro Morioka
Kandai Nozu
Kazumoto Iijima
Mariko Taniguchi-Ikeda
Mariko Yagi
Masafumi Matsuo
P2860
P2888
P304
P356
10.1038/JHG.2015.157
P577
2016-01-07T00:00:00Z