학술논문
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3)and Genotype--Phenotype Correlations.
Document Type
Article
Author
Source
Subject
*CONNEXINS
*GENETIC mutation
*GENETIC disorders
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Language
ISSN
0022-202X
Abstract
Studies the coding region of connexin gene (GJB4) in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3 gene. Characteristics of erythrokeratodermia variabilis; Findings of mutation analysis; Extent and severity of hyperkeratosis; Mutations associated with the occurrence of erythematous patches in affected children.