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Article

Molecular analyses of a tyrosinase-negative albino family.

American journal of human genetics - 1 Feb 1993

Park K C, Chintamaneni C D, Halaban R, Witkop C J, Kwon B S

Abstract excerpt

Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. One allele carried a C--> A single-base substitution in codon 355 of exon 3, and the other carried a two-nucleotide deletion in exon 1. The nucleotide substitution caused a putative amino acid change from threonine (ACA) to lysine (AAA),...

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Identifiers

PMID: 8430701
PMCID: PMC1682201

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