Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
about
Unrevealed mosaicism in the next-generation sequencing eraExploiting the potential of next-generation sequencing in genomic medicine.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
P2860
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mosaicism for dominant collage ...... amilial phenotypic variability
@ast
Mosaicism for dominant collage ...... amilial phenotypic variability
@en
type
label
Mosaicism for dominant collage ...... amilial phenotypic variability
@ast
Mosaicism for dominant collage ...... amilial phenotypic variability
@en
prefLabel
Mosaicism for dominant collage ...... amilial phenotypic variability
@ast
Mosaicism for dominant collage ...... amilial phenotypic variability
@en
P2093
P2860
P356
P1433
P1476
Mosaicism for dominant collage ...... amilial phenotypic variability
@en
P2093
A Reghan Foley
Alice B Schindler
Carsten G Bönnemann
Erik-Jan Kamsteeg
Francesco Muntoni
Jahannaz Dastgir
Katherine Meilleur
Meganne E Leach
P2860
P356
10.1002/HUMU.22691
P577
2015-01-01T00:00:00Z