Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
about
Advances in therapeutic development for spinal muscular atrophy.Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophyA homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
P2860
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@ast
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@en
type
label
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@ast
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@en
prefLabel
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@ast
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@en
P2093
P2860
P356
P1433
P1476
Subtle mutations in the SMN1 g ...... transcript exclusion of exon7.
@en
P2093
Bai Jin-li
Jin Yu-wei
Li Er-zhen
P2860
P2888
P356
10.1186/1471-2350-13-86
P577
2012-09-20T00:00:00Z
P5875
P6179
1038393935