RT Journal Article
SR Electronic
T1 A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 464
OP 467
DO 10.1136/jmg.28.7.464
VO 28
IS 7
A1 Giebel, L B
A1 Musarella, M A
A1 Spritz, R A
YR 1991
UL http://jmg.bmj.com/content/28/7/464.abstract
AB We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.