RGD Reference Report - The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. - Rat Genome Database

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The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Authors: Sugiura, K  Arima, M  Matsunaga, K  Akiyama, M 
Citation: Sugiura K, etal., Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.
RGD ID: 11251416
Pubmed: PMID:25556823   (View Abstract at PubMed)
DOI: DOI:10.1111/bjd.13641   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
erythrokeratodermia variabilis  IAGP 11251416DNA:missense mutation:exon:p.T202N (c.605C>A) (human)RGD 
erythrokeratodermia variabilis  ISOGJB3 (Homo sapiens)11251416; 11251416DNA:missense mutation:exon:p.T202N (c.605C>A) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gjb3  (gap junction protein, beta 3)

Genes (Mus musculus)
Gjb3  (gap junction protein, beta 3)

Genes (Homo sapiens)
GJB3  (gap junction protein beta 3)


Additional Information