Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

doi:10.1006/mgme.1998.2679

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Article

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Molecular genetics and metabolism - 1 Jun 1998

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer M I, Kuehl E, Bernardini I, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. HPS is common in northwest Puerto Rico, where affected individuals are homozygous for a 16-bp duplication in the gene HPS. Two other homozygous frameshift mutations...

Topics

Adolescent
Adult
Albinism, Oculocutaneous
Base Sequence
Child
DNA Mutational Analysis
Female
Genes
Heterozygote
Humans
Male
Membrane Proteins
Mutation
Platelet Storage Pool Deficiency
RNA

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