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searching for Hermansky–Pudlak syndrome 14 found (53 total)

alternate case: hermansky–Pudlak syndrome

HPS3 (705 words) [view diff] exact match in snippet view article find links to article

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene. This gene encodes a protein containing a potential clathrin-binding

HPS5 (625 words) [view diff] exact match in snippet view article find links to article

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene. This gene encodes a protein that may play a role in organelle

HPS1 (913 words) [view diff] exact match in snippet view article find links to article

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene. This gene encodes a protein that may play a role in organelle

HPS4 (785 words) [view diff] exact match in snippet view article find links to article

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene. Hermansky–Pudlak syndrome is a disorder of organelle biogenesis

William A. Gahl (854 words) [view diff] exact match in snippet view article find links to article

group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases. Gahl was the leader in

Biogenesis of lysosome-related organelles complex 3 (247 words) [view diff] exact match in snippet view article find links to article

Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3

BLOC1S2 (561 words) [view diff] exact match in snippet view article find links to article

Gwynn B, Moriyama K, et al. (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex

PLDN (826 words) [view diff] exact match in snippet view article find links to article

Bonifacino JS, Peters LL (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex

Biogenesis of lysosome-related organelles complex 1 (1,679 words) [view diff] case mismatch in snippet view article find links to article

in all BLOC complexes lead to diseased states characterized by Hermansky-Pudlak Syndrome (HPS), a pigmentation disorder subdivided into multiple types

SNAPAP (1,230 words) [view diff] exact match in snippet view article find links to article

Bonifacino JS, Peters LL (Jun 2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex

F2RL3 (931 words) [view diff] exact match in snippet view article find links to article

stabilizing platelet-platelet aggregates as revealed by a patient with Hermansky-Pudlak syndrome". Thromb. Haemost. 87 (4): 722–7. doi:10.1055/s-0037-1613071.

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

TRPV4 Hermansky–Pudlak syndrome 1; 203300; HPS1 Hermansky–Pudlak syndrome 2; 608233; AP3B1 Hermansky–Pudlak syndrome 3; 203300; HPS3 Hermansky–Pudlak syndrome

ARMH3 (1,768 words) [view diff] exact match in snippet view article find links to article

BLAT Search Tool". Retrieved 18 March 2013. "Entrez Gene: HPS6 Hermansky-Pudlak syndrome 6". Retrieved 5 May 2013. Burgoyne RD (Mar 2007). "Neuronal calcium

Bruce Beutler (12,100 words) [view diff] exact match in snippet view article find links to article

Nora G.; Beutler, Bruce (November 16, 2010). "Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid