%0 Generic
%A S., Zhang
%A X., Zhou
%A S., Liu
%A T., Bai
%A Y., Zhang
%A J., Wang
%A S., Wang
%A X., Zhang
%A B., Wang
%D 2014
%T Supplementary Material for: MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_b_i_MYH9_i_b_-Related_Disease_Description_of_a_Large_Chinese_Pedigree_and_a_Survey_of_Reported_Mutations/5125870
%R 10.6084/m9.figshare.5125870.v1
%2 https://ndownloader.figshare.com/files/8713021
%K Bioinformatics
%K Missense single nucleotide variants
%K MYH9-related disease
%K Pathogenic mutations
%K Thrombocytopenia
%X 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.
%I Karger Publishers