Article
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
The Journal of investigative dermatology - 1 Oct 2005
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
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal accumulation of ceroid-like material. Seven genetically distinct subtypes of HPS are known in humans; most are rare outside of Puerto Rico. Here, we describe the analysis of the HPS1 gene in 24 Japanese OCA patients who lacked mutations in the four genes known to...
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