Article
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Human mutation - 1 Aug 2001
Nauck M S, Köster W, Dörfer K, Eckes J, Scharnagl H, Gierens H, Nissen H, Nauck M A, Wieland H, März W
Abstract excerpt
In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 exons and their flanking intronic sequences including the promoter region of the LDL-R gene using a combination of polymerase chain reaction (PCR), denaturing gradient gel...
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