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A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

  December, 14 2005 10:42
your information resource in human molecular genetics
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. These findings, reported in the Jan 2006 issue of The American Journal of Human Genetics (Vol. 78, pp. 160-166), define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS.

Author Contact:

Eamonn R. Maher
Section of Medical and Molecular Genetics

Abstract available online.

(C) The American Journal of Human Genetics.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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