Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation

• DOI: 10.4274/tjh.galenos.2020.2020.0213
• Publication Date: 2020-07-03T12:57:53Z
• Authors: Junjie Fan; Jing Ling; Huifeng Zhou; Jie He; Shaoyan Hu
• Keywords: Genotype; DNA Mutational Analysis; thrombocytopenia; von Willebrand Disease, Type 2; Diagnosis, Differential; 03 medical and health sciences; 0302 clinical medicine; von Willebrand Factor; Humans; Diseases of the blood and blood-forming organs; vwf gene; Letters to the Editor; Codon; Blood Coagulation; Alleles; Infant, Newborn; High-Throughput Nucleotide Sequencing; Thrombocytopenia; Amino Acid Substitution; Mutation; type 2b von willebrand disease; Female; Blood Coagulation Tests; RC633-647.5