Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard, Gabriele

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. [electronic resource] - American journal of human genetics May 2002 - 1341-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0002-9297

10.1086/339986 doi


Base Sequence
Connexin 26
Connexins--genetics
Cornea--metabolism
Ectodermal Dysplasia--genetics
Epithelium--metabolism
Female
Fluorescent Antibody Technique
HeLa Cells
Hearing Loss, Sensorineural--genetics
Heterozygote
Humans
Ichthyosis--genetics
Keratitis--genetics
Male
Mutation, Missense--genetics
Pedigree
Phenotype
Protein Transport
Skin--metabolism
Syndrome