title: Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient.
authors: Department of Thrombosis and Haemostasis, National Institute of Immunohaematology (ICMR), 13th Floor NMS Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
authors: Priyanka
authors: P
authors: Kasatkar
authors: Bipin
authors: B
authors: Kulkarni
authors: Kanjaksha
authors: K
authors: Ghosh
authors: Shrimati
authors: S
authors: Shetty
mesh_terms: D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D014841:von Willebrand Factor