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"Hermansky-Pudlak" syndrome 4
- ... 10.1164/rccm.201207-1206OC. Epub 2012 Oct 4. Citation on PubMed or Free article on PubMed Central
- ... a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Citation on ...
- ... Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20. doi: 10.1111/j.0022-202X. ...