Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

This publication has 37 references indexed in Scilit:

• Characterization of the Murine Gene Corresponding to Human Hermansky-Pudlak Syndrome Type 3: Exclusion of the Subtle Gray (sut) Locus
  Molecular Genetics and Metabolism, 2001
• Molecular Basis of Mendelian Disorders among Jews
  Molecular Genetics and Metabolism, 2000
• Clinical, Molecular, and Cell Biological Aspects of Chediak–Higashi Syndrome
  Molecular Genetics and Metabolism, 1999
• Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population
  Human Genetics, 1999
• Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle Formation
  Molecular Genetics and Metabolism, 1998
• β3A-adaptin, a Subunit of the Adaptor-like Complex AP-3
  Published by Elsevier ,1997
• Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles
  Nature Genetics, 1996
• A novel adaptor-related protein complex.
  The Journal of cell biology, 1996
• Hermansky-Pudlak syndrome with granulomatous colitis in children
  The Journal of Pediatrics, 1991
• Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome
  American Journal of Hematology, 1987