Article
Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease.
Clinical genetics - 1 Jul 1995
Jensen H K, Hansen P S, Jensen L G, Kristensen M J, Klausen I C, Kjeldsen M, Lemming L, Bolund L, Gregersen N, Faergeman O
Abstract excerpt
In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for the third cysteine-rich repeat of the ligand-binding domain. The resulting translational...
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