A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

This publication has 30 references indexed in Scilit:

• Clinical, Molecular, and Cell Biological Aspects of Chediak–Higashi Syndrome
  Molecular Genetics and Metabolism, 1999
• Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle Formation
  Molecular Genetics and Metabolism, 1998
• Mutation in AP-3 δ in the mocha Mouse Links Endosomal Transport to Storage Deficiency in Platelets, Melanosomes, and Synaptic Vesicles
  Neuron, 1998
• Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: An ultrastructural study
  Pathology International, 1995
• Melanosomes Are Specialized Members of the Lysosomal Lineage of Organelles
  Journal of Investigative Dermatology, 1995
• Partial albinism with immunodeficiency (Griscelli syndrome)
  The Journal of Pediatrics, 1994
• Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome
  American Journal of Hematology, 1987
• The Hermansky–Pudlak Syndrome
  Medicine, 1985
• The Hermansky‐Pudlak Syndrome: Inclusions in Circulating Leucocytes
  British Journal of Haematology, 1973
• THE CHEDIAK-HIGASHI SYNDROME
  Medicine, 1972