PMC Links for Nucleotide (Select 1675176779) - PMC

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Items: 4

Select item 36406231.

Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico

Maribel Torres Serrant, Sonia I Ramirez, Carmen L Cadilla, Gilberto Ramos-Valencia

J Pediatr Hematol Oncol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: J Pediatr Hematol Oncol. 2010 Aug; 32(6): 448–453. doi: 10.1097/MPH.0b013e3181e5e1f1

PMCID:: PMC3640623

Abstract Article PDF–1.2M

Select item 35028622.

BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor

Andreas Gerondopoulos, Lars Langemeyer, Jin-Rui Liang, Andrea Linford, Francis A. Barr

Curr Biol. 2012 Nov 20; 22(22): 2135–2139. doi: 10.1016/j.cub.2012.09.020

PMCID:: PMC3502862

Abstract Article PDF–721K

Select item 13769513.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

J Oh, L Ho, S Ala-Mello, D Amato, L Armstrong, S Bellucci, G Carakushansky, J P Ellis, C T Fong, J S Green, E Heon, E Legius, A V Levin, H K Nieuwenhuis, A Pinckers, N Tamura, M L Whiteford, H Yamasaki, R A Spritz

Am J Hum Genet. 1998 Mar; 62(3): 593–598. doi: 10.1086/301757

PMCID:: PMC1376951

Summary PDF–283K

Select item 12743494.

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Am J Hum Genet. 2001 Nov; 69(5): 1022–1032. Published online 2001 Oct 3. doi: 10.1086/324168