Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.

doi:10.1111/j.1600-0749.1990.tb00380.x

Back to search

Article

Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.

Pigment cell research - 1 Jan 1992

King R A, Oetting W S

Abstract excerpt

Type IA (Tyrosinase negative) oculocutaneous albinism (OCA) is produced by mutations of the tyrosinase gene. We have found a total of 13 different mutations associated with type IA OCA. Analysis of the distribution of the 9 missense mutations shows that most of these mutations cluster in three ar...

Topics

Albinism, Oculocutaneous
Amino Acid Sequence
Animals
Base Sequence
DNA Mutational Analysis
Exons
Genes
Humans
Mice
Molecular Sequence Data
Monophenol Monooxygenase
Mutation
Polymerase Chain Reaction
Sequence Homology

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.