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Article

Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.

Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) - 1 Mar 1999

McGarry M P, Reddington M, Novak E K, Swank R T

Abstract excerpt

Hermansky-Pudlak Syndrome (HPS), a recessively inherited disease in humans, affects the biosynthesis/processing of the related intracellular organelles: lysosomes, melanosomes, and platelet dense granules. The disease is multigenic in both humans and mice where 14 separate genes have been demonstrated to be causative. Patients often die prematurely with severe lung abnormalities. Patients with the related...

Topics

Albinism, Oculocutaneous
Animals
Chediak-Higashi Syndrome
Disease Models, Animal
Female
Genotype
Homozygote
Humans
Lung
Male
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice, Inbred C57BL

Mice, Mutant Strains

Mutation

Survival Rate

Source

Identifiers

PMID: 10193444
DOI: 10.1046/j.1525-1373.1999.d01-24.x

Provenance

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Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.PMID 10193444Read ↗

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Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).Semantic proximity Read ↗

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