(Q57840086)
Statements
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency (English)
Bijvoet SM
Wiebusch H
Ma Y
Reymer PW
Bruin T
Bakker HD
Funke H
Assmann G
1 November 1996