title: The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
authors: Aihua
authors: A
authors: Wei
authors: Shi
authors: S
authors: Lian
authors: Lejin
authors: L
authors: Wang
authors: Wei
authors: W
authors: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D022861:Hermanski-Pudlak Syndrome / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins