[New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A].
Aquaron
R
R
Hesse
S
S
Badens
C
C
Bonerandi
J-J
JJ
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*
D018389:Codon, Nonsense; D014442:Monophenol Monooxygenase