The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
Wei
Aihua
A
Lian
Shi
S
Wang
Lejin
L
Li
Wei
W
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
C102160:HPS1 protein, human; D008565:Membrane Proteins