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

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

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

1959 • 539 citations

Disorders of peroxisome biogenesis

1995 • 289 citations

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

1996 • 281 citations

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

1987 • 181 citations

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

1990 • 170 citations

Hermansky-Pudlak Syndrome with Granulomatous Colitis

1980 • 152 citations

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci

1984 • 141 citations

The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndrome

1997 • 137 citations

Hermansky-Pudlak Syndrome

1988 • 107 citations

Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare 'AT-AC' Intron

1997 • 106 citations

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.

1995 • 82 citations

Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome.

1994 • 60 citations

Organization and Nucleotide Sequence of the Human Hermansky-Pudlak Syndrome (HPS) Gene

1997 • 51 citations

Elevated urinary dolichol excretion in the hermansky-pudlak syndrome. Indicator of lysosomal dysfunction

1987 • 43 citations

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

1981 • 38 citations

Syndrome d'Hermansky-Pudlak dans un village valaisan

1983 • 13 citations

[Hermansky-Pudlak syndrome in a Valais village].

1983 • 10 citations