A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Source:http://linkedlifedata.com/resource/pubmed/id/12019212

Hum. Mol. Genet. 2002 May 15 11 11 1311-6

Download in:

View as

Triples

General Info

PMID
12019212