Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. In a recent report on the cloning of an HPS gene, all 22 Puerto Rican HPS patients were homozygous for a 16-bp duplication in exon 15. This presumably reflected a foun...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Hazelwood, S, Shotelersuk, V, Wildenberg, S C, Chen, D, Iwata, F, Kaiser-Kupfer, M I, White, J G, King, R A, Gahl, W A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1997
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716022/
https://ncbi.nlm.nih.gov/pubmed/9345105
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