Gillian C Lowe Isabel Sánchez Guiu Oliver Chapman José Rivera Marie Lordkipanidzé Natalia Dovlatova Jonathan Wilde Steve P Watson Neil V Morgan UK GAPP collaborative
10.1160/TH12-11-0876
Thromb Haemost
2013 Apr;109(4):766-8.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23364359/
Carrier Proteins / genetics Hermanski-Pudlak Syndrome / genetics Microsatellite Repeats Mutation
Carrier Proteins / genetics Hermanski-Pudlak Syndrome / genetics Microsatellite Repeats Mutation Case Reports Letter Research Support, Non-U.S. Gov't Aged Blood Coagulation / genetics Carrier Proteins / blood Codon, Nonsense DNA Mutational Analysis Dysbindin Dystrophin-Associated Proteins Female Genetic Predisposition to Disease Heredity Hermanski-Pudlak Syndrome / blood Humans Pedigree Phenotype Prognosis Skin Pigmentation / genetics Carrier Proteins Codon, Nonsense DTNBP1 protein, human Dysbindin Dystrophin-Associated Proteins
PMC3641626
23364359
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life
2013