Concepedia

Intestinal Disease in Hermansky-Pudlak Syndrome: Occurrence of Colitis and Relation to Genotype

Nadeem Hussain, Martha Quezado, Marjan Huizing, David Geho, James G. White, William A. Gahl, Peter Mannon

Clinical Gastroenterology and Hepatology · 2006 · 66 citations · 33 references

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33

Clinical epidemiology of inflammatory bowel disease: incidence, prevalence, and environmental influences

Edward V. Loftus · Gastroenterology · 2004 · 3.1K citations · Full text

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Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

Esteban C. Dell’Angelica, Vorasuk Shotelersuk, R. Claudio Aguilar et al. · Molecular Cell · 1999 · 670 citations · Full text

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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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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso et al. · Nature Genetics · 2003 · 432 citations · Full text

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AP‐3: an adaptor‐like protein complex with ubiquitous expression

Esteban C. Dell’Angelica · The EMBO Journal · 1997 · 390 citations · Full text

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