G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
Alexandrino
Fabiana
F
Sartorato
Edi Lúcia
EL
Marques-de-Faria
Antonia Paula
AP
Steiner
Carlos Eduardo
CE
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006229:Hand Dermatoses / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D007642:Keratosis / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA