Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
about
Promises, pitfalls and practicalities of prenatal whole exome sequencing.A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.Distinct transcriptomic changes in E14.5 mouse skeletal muscle lacking RYR1 or Cav1.1 converge at E18.5.
P2860
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Intra-familial variability ass ...... renatally by exome sequencing.
@en
Intra-familial variability ass ...... renatally by exome sequencing.
@nl
type
label
Intra-familial variability ass ...... renatally by exome sequencing.
@en
Intra-familial variability ass ...... renatally by exome sequencing.
@nl
prefLabel
Intra-familial variability ass ...... renatally by exome sequencing.
@en
Intra-familial variability ass ...... renatally by exome sequencing.
@nl
P2093
P2860
P356
P1433
P1476
Intra-familial variability ass ...... renatally by exome sequencing.
@en
P2093
Emma Doyle
Jillian Casey
Karen Flood
Michael Farrell
Sally Ann Lynch
P2860
P304
P356
10.1002/PD.4925
P50
P577
2016-09-12T00:00:00Z