A novel MITF splice site mutation in a family with Waardenburg syndrome.
Monma
Fumiko
F
Hozumi
Yutaka
Y
Kawaguchi
Masakazu
M
Katagiri
Yoshiyuki
Y
Watanabe
Tomoo
T
Yoshihiko
Ito
I
Suzuki
Tamio
T
D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005190:Family; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D009154:Mutation; D014849:Waardenburg Syndrome / Q000235:genetics*
C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor