High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein-Reference-Cited by-同舟云学术

High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein

Published:2005-10 Issue:4 Volume:125 Page:715-720
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Ito Shiro,Suzuki Tamio,Inagaki Katsuhiko,Suzuki Noriyuki,Takamori Kenji,Yamada Tomoko,Nakazawa Mitsuru,Hatano Michihiro,Takiwaki Hirotsugu,Kakuta Yumi,Spritz Richard A.,Tomita Yasushi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference32 articles.

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3. The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles;Chiang;J Biol Chem,2003

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5. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: A new syndrome;Davies;Q J Med,1976

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