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

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Genetics, Rna Splicing, Molecular Biology +19

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

Richard Treisman, Stuart H. Orkin, Tom Maniatis · Nature · 1983 · 614 citations

Biology, Transcriptional Regulation, Natural Sciences +10

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 · 546 citations · Full text

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 · 281 citations

Chromatin, Developmental Biology, Mendelian Disorder +11

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

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

Ophthalmology, Puerto Rico, Genetic Disorder +8