Concepedia

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

Shiro Ito, Tamio Suzuki, Katsuhiko Inagaki, Noriyuki Suzuki, Kenji Takamori, Tomoko Yamada, Mitsuru Nakazawa, Michihiro Hatano, Hirotsugu Takiwaki, Yumi Kakuta,

Journal of Investigative Dermatology · 2005 · 56 citations · 28 references

DOI

Concepts

References

28

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

, , +14

Handbook of human genetic linkage

Elizabeth M. Petty · Trends in Endocrinology and Metabolism · 1995 · 565 citations

, , +11

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

, , +6

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

, , +15

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

, , +9