Zhao-Xia Wang Yi-Hui Liu Yi Dong Ya-Li Li Tie-Yu Tang Liang-Liang Fan
10.1155/2021/4535349
Biomed Res Int
2021 Sep 24;2021:4535349.
CC BY
https://pubmed.ncbi.nlm.nih.gov/34608437/
Consanguinity Exome Sequencing Frameshift Mutation / genetics Genetic Loci Hermanski-Pudlak Syndrome / genetics
Consanguinity Exome Sequencing Frameshift Mutation / genetics Genetic Loci Hermanski-Pudlak Syndrome / genetics Case Reports Aged Base Sequence Family Female Homozygote Humans Intracellular Signaling Peptides and Proteins / genetics Male Pedigree Platelet Aggregation HPS3 protein, human Intracellular Signaling Peptides and Proteins
PMC8487392
34608437
Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
2021