Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.
We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of the disorder.
Ma
Edmond S K
ES
Wong
Chris L P
CL
Shek
Tony W H
TW
Hui
S P
SP
D002681:China; D005192:Family Health; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains