A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
about
Deciphering the Wisent Demographic and Adaptive Histories from Individual Whole-Genome SequencesA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Mouse models for blistering skin disorders.Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.Autoimmunity to desmocollin 3 in pemphigus vulgaris.Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).To grow or not to grow: hair morphogenesis and human genetic hair disordersDesmosomes: adhesive strength and signalling in health and disease.Desmosomal genodermatoses.Congenital hair loss disorders: rare, but not too rare.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Genetics of human isolated hereditary hair loss disorders.Inherited desmosomal disorders.Epidermal cell junctions and their regulation by p63 in health and disease.Cell adhesion in epidermal development and barrier formation.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.Desmosomes at a glanceNo evidence of skin blisters with human desmocollin-3 gene mutation.[Genetic hair diseases. An update].Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani familiesCadherins in tissue architecture and disease
P2860
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P2860
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@ast
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@en
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@nl
type
label
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@ast
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@en
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@nl
prefLabel
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@ast
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@en
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@nl
P2093
P2860
P3181
P1476
A homozygous nonsense mutation ...... is and recurrent skin vesicles
@en
P2093
Fazal Ur Rehman
Masoom Yasinzai
Muhammad Ayub
Muhammad Iqbal
Wasim Ahmad
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.08.015
P407
P577
2009-10-01T00:00:00Z