Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
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Cadherins as targets for genetic diseases.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype.Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.Desmosomes: adhesive strength and signalling in health and disease.Desmosomal genodermatoses.Inherited desmosomal disorders.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screeningNovel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
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P2860
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 January 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
@en
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
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type
label
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
@en
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
@nl
prefLabel
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
@en
Mutations in the desmoglein 1 ...... iate palmoplantar keratoderma.
@nl
P2093
P2860
P1476
Mutations in the desmoglein 1 ...... riate palmoplantar keratoderma
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P2093
Angela M Christiano
Liv Kraemer
Muhammad Wajid
Yutaka Shimomura
P2860
P304
P356
10.1016/J.JDERMSCI.2008.11.005
P577
2009-01-20T00:00:00Z