Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
about
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.Diseases of epidermal keratins and their linker proteinsDesmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.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.Palmoplantar keratodermas: clinical and genetic aspects.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening
P2860
Q36733429-E8A8B16B-4E0C-4C34-817B-1BFE7AB2C81BQ36832566-09FBB0E4-5716-4ABB-811F-31F912923848Q37218675-6B91E7AD-8F0E-450A-8493-356C247AE9E6Q37935047-7346D512-9D21-4184-AA36-1C34F9CC71DBQ38285372-D9CDE06A-4CB0-4AC6-9FDE-FFBA7D4306C2Q38591830-6A0BEB81-0880-4A07-86A8-F0F7FD53CF81Q38714533-7777929F-C6DA-4EB0-AACA-4AE38A77C033Q38761875-7388F815-55EB-4292-A88B-31947DE1F8D2Q42334449-54EC6FB1-4803-453F-B828-AC4E4A17EBF2
P2860
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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name
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@en
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@nl
type
label
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@en
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@nl
prefLabel
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@en
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@nl
P2093
P1433
P1476
Diffuse nonepidermolytic palmo ...... ent nonsense mutation in DSG1.
@en
P2093
Eli Sprecher
Hannah Keren
Mordechai Mizrachi
Reuven Bergman
Yechiezkel Kashi
P304
P356
10.1001/ARCHDERM.141.5.625
P577
2005-05-01T00:00:00Z