A functional mutation in the LDLR promoter (−139C>G) in a patient with familial hypercholesterolemia

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

Karen E. Heath, Steve E. Humphries, Helen Middleton‐Price et al. · European Journal of Human Genetics · 2001 · 107 citations

Life Sciences, Genetics, Molecular Genetics +11

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

Ulla‐Maija Koivisto, Jorma J. Palvimo, Olli A. Jänne et al. · Proceedings of the National Academy of Sciences · 1994 · 104 citations

Life Sciences, Genetics, Molecular Biology +17

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

Caroline F. Bunn, C.J. Lintott, Russell Scott et al. · Human Mutation · 2002 · 46 citations

Medicine, Genetics, Molecular Genetics +13

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)

X.-M. Sun, Clare Neuwirth, David P. Wade et al. · Human Molecular Genetics · 1995 · 43 citations

Life Sciences, Genetics, Molecular Genetics +17