Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
about
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implicationsIdentification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutationsThe Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domainsImpact of next generation sequencing on diagnostics in a genetic skin disease clinic.Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height.
P2860
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@ast
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@en
type
label
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@ast
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@en
prefLabel
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@ast
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@en
P2093
P2860
P356
P1476
Detection of de novo mutations ...... hidrotic ectodermal dysplasia.
@en
P2093
P2860
P304
P356
10.1136/JMG.31.4.287
P407
P577
1994-04-01T00:00:00Z