A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Oetting
W S
WS
Department of Medicine-Genetics, University of Minnesota, Minneapolis 55455.
Fryer
J P
JP
King
R A
RA
D016115:Albinism, Oculocutaneous / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D010154:Pakistan; D017384:Sequence Deletion
D004247:DNA; D014442:Monophenol Monooxygenase