Description of a novel mutation leading to MYH9-related disease.
Burt
Rachel A
RA
Joseph
Joanne E
JE
Milliken
Sam
S
Collinge
Janelle E
JE
Kile
Benjamin T
BT
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*
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains