Publication

Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA, Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet62:593-8 1998
PubMed ID: 9497254

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingDescription
GM13958Female7 YRHERMANSKY-PUDLAK SYNDROME; HPS