Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder?
Nicole
N
Schlegel
Sylvie
S
Binard
Béatrice
B
Saposnik
D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*
D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains