title: Description of a novel mutation leading to MYH9-related disease.
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Burt
authors.forename: Joanne E
authors.initials: JE
authors.lastname: Joseph
authors.forename: Sam
authors.initials: S
authors.lastname: Milliken
authors.forename: Janelle E
authors.initials: JE
authors.lastname: Collinge
authors.forename: Benjamin T
authors.initials: BT
authors.lastname: Kile
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains