We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations.
- Authors
Zhang, Shufang; Zhou, Xueya; Liu, Shengnan; Bai, Tingting; Zhang, Yingai; Wang, Jing; Wang, Shunlan; Zhang, Xuegong; Wang, Binbin
- Abstract
We describe a large four-generational Chinese pedigree segregating MYH9-related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed. © 2014 S. Karger AG, Basel
- Subjects
MYOSIN genetics; CHINESE people; SINGLE nucleotide polymorphisms; GENETIC mutation; THROMBOCYTOPENIA treatment; BIOINFORMATICS; DISEASES
- Publication
Acta Haematologica, 2014, Vol 132, Issue 2, p193
- ISSN
0001-5792
- Publication type
Article
- DOI
10.1159/000356681