Splice-Site Mutations in Atherosclerosis Candidate Genes

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1992 • 1,142 citations

A role for exon sequences and splice-site proximity in splice-site selection

1986 • 494 citations

Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins

1989 • 468 citations

Information Content of Individual Genetic Sequences

1997 • 304 citations

Familial apolipoprotein E deficiency.

1986 • 300 citations

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites

1992 • 268 citations

The human gene mutation database

1997 • 267 citations

The Biochemical, Clinical, and Genetic Features of Type III Hyperlipoproteinemia

1975 • 260 citations

Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia

1985 • 250 citations

Information analysis of human splice site mutations

1998 • 187 citations

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

1991 • 120 citations

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

1997 • 116 citations

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

1993 • 102 citations

Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences

1997 • 100 citations

A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

1990 • 96 citations

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene.

1987 • 91 citations

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

1996 • 79 citations

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

1996 • 77 citations

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1996 • 67 citations

Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.

1988 • 64 citations

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1996 • 60 citations

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites

1995 • 57 citations

Characterization of a Splice-Site Mutation in the Gene for the LDL Receptor Associated With an Unpredictably Severe Clinical Phenotype in English Patients With Heterozygous FH

1995 • 56 citations

Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.

1995 • 56 citations

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.

1990 • 54 citations

Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease

1996 • 49 citations

The Risk of Atherosclerotic Vascular Disease in Subjects with Xanthomatosis

1975 • 49 citations

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

1996 • 44 citations

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

1995 • 44 citations

ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.

1991 • 43 citations

Common Mutations in the Low-Density-Lipoprotein–Receptor Gene Causing Familial Hypercholesterolemia in the Japanese Population

1995 • 43 citations

Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153-171.

1999 • 38 citations

Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.

1994 • 37 citations

An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

1995 • 37 citations

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population

1997 • 36 citations

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

1995 • 34 citations

Deficiency of Serum Cholesteryl-ester Transfer Activity in Patients with Familial Hyperalphalipoproteinemia

1987 • 34 citations

Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154–>Ser substitution in lipoprotein lipase.

1993 • 30 citations

Genetic Markers for Studies of Atherosclerosis and Related Risk Factors

2015 • 28 citations

Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.

1994 • 27 citations

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

1995 • 22 citations

Gene polymorphism identified by Pvull in familial lipoprotein lipase deficiency

1989 • 22 citations

Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis

1993 • 18 citations

A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family

1992 • 17 citations

Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

1996 • 15 citations

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

1996 • 14 citations

Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia

1995 • 9 citations

A compound heterozygote for familial hypercholesterolaemia with a homozygous mother

1996 • 5 citations