Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

F Heřmanský, Pavel Pudlák · Blood · 1959 · 548 citations · Full text

Medicine, Hematology, Pathology +16

Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles

Jangsuk Oh, Bailin Tu, Kazuyoshi Fukai et al. · Nature Genetics · 1996 · 282 citations

Life Sciences, Genetics, Molecular Genetics +9

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome

Carl J. Witkop, Marcy Krumwiede, Heddie O. Sedano et al. · American Journal of Hematology · 1987 · 183 citations

Medicine, Hematology, Pathology +16

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

Carl J. Witkop, M. Nuñez Babcock, G. H. Rao et al. · PubMed · 1990 · 179 citations

Life Sciences, Genetics, Ophthalmology +13