A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
about
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.Acral peeling skin syndrome in two East-African siblings: case reportAdult-onset acral peeling skin syndrome in a non-identical twin: a case report in South AfricaLoss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Novel TGM5 mutations in acral peeling skin syndrome.Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boyA Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.Inflammatory peeling skin syndrome caused a novel mutation in CDSN.Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions.
P2860
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P2860
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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name
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@en
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@nl
type
label
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@en
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@nl
prefLabel
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@en
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
@nl
P2093
P356
P1476
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family
@en
P2093
Bécima Fazaa
Donia Ammar
Habib Jaafoura
Judith Fischer
Mohamed Ridha Kamoun
Monia Kharfi
Nadia El Fekih
Susanne Schwonbeck
P2888
P304
P356
10.1038/JID.2009.118
P407
P577
2009-05-14T00:00:00Z