Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

doi:10.1016/0009-8981(94)90131-7

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Article

Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 1994

Breimer L H, Winder A F, Jay B, Jay M

Abstract excerpt

Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the initiating methionine c...

Topics

Adult
Albinism
Base Sequence
Codon, Initiator
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Monophenol Monooxygenase
Mutation

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