Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: Update, new features and mutation analysis

Atherosclerosis

Volumn 154, Issue 1, 2001, Pages 243-246

  Heath, Karen E ^a,b   Gahan, Mike ^c   Whittall, Ros A ^a   Humphries, Steve E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Familial hypercholesterolaemia; Low density lipoprotein receptor; Mutations

Indexed keywords

EPIDERMAL GROWTH FACTOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

CHROMOSOME 19P; DATA BASE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; INTERNET; INTRON; LIGAND BINDING; MISSENSE MUTATION; PRIORITY JOURNAL; RECEPTOR BINDING; REVIEW; RNA SPLICING;

EID: 0035197537     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(00)00647-X     Document Type: Article

References (14)

1. Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia
2. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: Synteny of a receptor, a ligand, and a genetic disease
3. The LDL receptor gene: A mosaic of exons shared with different proteins
4. A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolaemia: Sequence based, tabular and direct submission data handling
5. Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolaemia
6. Common low-density lipoprotein receptor mutations in the French Canadian population
7. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolaemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
8. Clinically applicable mutation screening in familial hypercholesterolaemia
9. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolaemia
10. Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolaemia in the United Kingdom
11. The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA
12. An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolaemia