Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.
Saitoh
S
S
Oiso
N
N
Wada
T
T
Narazaki
O
O
Fukai
K
K
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D017204:Angelman Syndrome / Q000235:genetics*; D002648:Child; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D020125:Mutation, Missense