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Article

5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.

Molecular genetics and metabolism - 1 Dec 2000

Li W, Detter J C, Weiss H J, Cramer E M, Zhang Q, Novak E K, Favier R, Kingsmore S F, Swank R T

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a recessively inherited disease with dysfunction of several related subcellular organelles including platelet-dense granules, melanosomes, and lysosomes. Our recent identification of the mutation in murine Rab geranylgeranyl transferase alpha-subunit gene (Rabggta) in one mouse model of HPS, the gunmetal mouse, suggested that human patients with similar phenotypes might have...

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Identifiers

PMID: 11136552
DOI: 10.1006/mgme.2000.3091

Genes

RABGGTA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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