Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.10.3.1 (
tyrosinase
)
9,065
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We examined the
tyrosinase
gene of two Japanese patients with
tyrosinase
-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygouts, namely, one allele of the
tyrosinase
gene harbored one of two known mutations and another allele probably had a mutation unknown in Japanese patients. Therefore, we have cloned and sequenced the
tyrosinase
gene of the two patients and identified two different point mutations. One is a nonsense mutation, codon 278CGA (Arg) to TGA (TER), and the other is a substitution mutation, codon 431CCA (Pro) to
CTA
(Leu). However, these same mutations have already been observed in a Guyanan and a Moroccan Jewish patient, and in an Indo-Pakistani patient, respectively.
...
PMID:R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. 895 13
