Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
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Recent advances in understanding ichthyosis pathogenesisConnexin channels in congenital skin disorders.Erythrokeratodermia variabilis et progressiva.Human diseases associated with connexin mutations.Connexin 43: Key roles in the skinConnexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
P2860
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P2860
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
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2014年论文
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name
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@ast
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@en
type
label
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@ast
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@en
prefLabel
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@ast
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@en
P2093
P2860
P356
P1476
Dominant De Novo Mutations in ...... f Oculodentodigital Dysplasia.
@en
P2093
Amy S Paller
Brittany G Craiglow
Christine T Lauren
Erin C Loring
Keith A Choate
Kimberly D Morel
Lynn M Boyden
Richard P Lifton
Ronghua Hu
P2860
P2888
P304
P356
10.1038/JID.2014.485
P407
P577
2014-11-14T00:00:00Z