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Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C‐terminal domain of lipoprotein lipase causes familial chylomicronemia
Author(s) -
Wiebusch Heiko,
Funke Harald,
Bruin Taco,
Bucher Hans,
von Eckardstein Arnold,
Kastelein John J.P.,
Assmann Gerd
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)8:4<381::aid-humu16>3.0.co;2-z
Subject(s) - missense mutation , biology , genetics , loss of heterozygosity , lipoprotein lipase , mutation , compound heterozygosity , familial hypercholesterolemia , biochemistry , enzyme , cholesterol , gene , allele