Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?
J Dermatol
.
2016 Jul;43(7):830-1.
doi: 10.1111/1346-8138.13277.
Epub 2016 Jan 30.
Authors
Yumie Yoshikata-Isokawa
1
,
Munenari Itoh
1
,
Hidemi Nakagawa
1
Affiliation
1
Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.
PMID:
26826093
DOI:
10.1111/1346-8138.13277
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Connexins / genetics*
DNA Mutational Analysis
Erythrokeratodermia Variabilis / genetics*
Female
Glycine
Humans
Middle Aged
Substances
Connexins
connexin 30.3
Glycine