Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Current Protocols in Human Genetics

2001 • 1,023 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 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

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

1996 • 281 citations

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

1984 • 172 citations

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

1990 • 170 citations

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

1997 • 137 citations

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

1997 • 106 citations

Genetics, Development, and Malignancy of Melanocytes

1993 • 89 citations

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

1995 • 82 citations

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3

1995 • 72 citations

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

1997 • 65 citations

Hermansky-Pudlak Syndrome in a Swiss Population

1993 • 57 citations

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

1997 • 51 citations

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

1995 • 41 citations

The Hermansky‐Pudlak Syndrome

1977 • 34 citations

Molecular map of Chromosome 19 including three genes affecting bleeding time: ep, ru, and bm

1994 • 28 citations

A Non-radioactive Method for Simultaneous Detection of Single-strand Conformation Polymorphisms (SSCPs) and Heteroduplexes

1995 • 27 citations

Syndrome d'Hermansky-Pudlak dans un village valaisan

1983 • 13 citations

[Hermansky-Pudlak syndrome in a Valais village].

1983 • 10 citations

Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

1995 • 1 citations