The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
about
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cordMutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilisDivergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitroConnexin mutations in skin disease and hearing loss.Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.Connexin gene pathology.Erythrokeratodermas: a classification in a state of flux?Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.Erythrokeratodermia variabilis et progressiva.Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate?Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndromeDisorders of KeratinizationA new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis
P2860
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P2860
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
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2000 nî lūn-bûn
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The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@ast
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@en
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@nl
type
label
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@ast
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@en
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@nl
prefLabel
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@ast
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@en
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@nl
P2093
P356
P1433
P1476
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
@en
P2093
A Terrinoni
R M Mackie
P356
10.1007/S004390051045
P407
P577
2000-03-01T00:00:00Z