Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
about
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
P2860
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@en
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@nl
type
label
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@en
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@nl
prefLabel
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@en
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@nl
P2093
P2860
P1433
P1476
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
@en
P2093
Chufeng He
Hongsheng Chen
Hunjin Luo
Lingyun Mei
P2860
P304
P356
10.1016/J.FEBSLET.2012.10.006
P407
P577
2012-10-23T00:00:00Z