Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
about
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cordConnexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaRecent advances in understanding ichthyosis pathogenesisThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsGap junctions and blood-tissue barriersMutations in connexin genes and disease.Connexin mutations in skin disease and hearing loss.Human connexin disorders of the skin.Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Gap junctions in inherited human disease.Structure of the gap junction channel and its implications for its biological functions.Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Connexins: junctional and non-junctional modulators of proliferation.Connexin channels in congenital skin disorders.Inherited ichthyosis: Non-syndromic forms.Erythrokeratodermia variabilis et progressiva.Human diseases associated with connexin mutations.Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation.Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.Cellular mechanisms of mutant connexins in skin disease and hearing loss.Connexin 26 expression and mutation analysis in epidermal disease.Disorders of Keratinization
P2860
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P2860
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
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2000年論文
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2000年論文
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2000年论文
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Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@ast
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en-gb
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@nl
type
label
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@ast
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en-gb
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@nl
prefLabel
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@ast
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en-gb
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@nl
P2093
P2860
P3181
P1476
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
@en
P2093
Panizzon R
Schorderet DF
P2860
P304
P3181
P356
10.1016/S0002-9297(07)62957-7
P407
P577
2000-10-03T00:00:00Z