Condition: Hermanski-Pudlak Syndrome
rs752074481 in
DTNBP1 gene and
Hermanski-Pudlak Syndrome
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
rs121908385 in
HPS1 gene and
Hermanski-Pudlak Syndrome
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
PMID 14510955 2003 Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
PMID 16185271 2005 High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
PMID 9497254 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
PMID 8896559 1996 Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
PMID 20662851 2011 Novel mutations in the HPS1 gene among Puerto Rican patients.
rs201227603 in
HPS3 gene and
Hermanski-Pudlak Syndrome
PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
rs766602179 in
HPS5 gene and
Hermanski-Pudlak Syndrome
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
rs1564899012 in
HPS6 gene and
Hermanski-Pudlak Syndrome
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.