Concepedia

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

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello, Dominick Amato, Linda Armstrong, Sylvia Bellucci, Gerson Carakushansky, J. Ellis, Chin-To Fong, Jane S. Green,

The American Journal of Human Genetics · 1998 · 162 citations · 18 references

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References

18

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

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

Richard Treisman, Stuart H. Orkin, Tom Maniatis · Nature · 1983 · 616 citations

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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

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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

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Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

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

, , +13