Hermansky-Pudlak Syndrome
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Pulmonary and Respiratory Medicine
Reference43 articles.
1. Hermansky-Pudlak syndrome;Gahl,1993
2. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9;Cullinane;Am J Hum Genet,2011
3. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak syndrome type 8;Cullinane;Pigment Cell Melanoma Res,2012
4. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome;Badolato;Blood,2012
5. Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2;Jones;BMC Med Genet,2013
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