Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

American Journal of Human Genetics

Volumn 68, Issue 3, 2001, Pages 653-660

  Eden, Emily R ^a   Naoumova, Rossitza P ^a   Burden, Jemima J ^a   McCarthy, Mark I ^a   Soutar, Anne K ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

ARTICLE; ATHEROSCLEROSIS; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1P; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC LINKAGE; GENOME; HAPLOTYPE; HUMAN; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RISK FACTOR;

EID: 0035095514     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318795     Document Type: Article

References (23)

1. A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26
2. Faster sequential genetic linkage computations
3. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
4. A comprehensive genetic map of the human genome based on 5,264 microsatellites
5. Investigation of a novel defect in patients with familial hypercholesterolaemia (FH): Homozygosity analysis of genetic markers in an affected consanguineous family
6. Familial hypercholesterolemia
7. Evidence for a third genetic locus causing familial hypercholesterolemia: A non-LDLR, non-APOB kindred
8. Recognition of sorting signals by clathrin adaptors
9. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred
10. The LDL receptor clustering motif interacts with the clathrin terminal domain in a reverse turn conformation
11. Linkage thresholds for two-stage genome scans
12. High-resolution genetic mapping of complex traits
13. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
14. Isolation of high molecular weight DNA from mammalian cells
15. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
16. Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia
17. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia
18. Phenotypic variation in heterozygous familial hypercholesterolemia: A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada
19. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
20. Familial hypercholesterolemia in China: Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype
21. Interaction of cytosolic adaptor proteins with neuronal apolipoprotein E receptors and the amyloid precursor protein
22. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32
23. Severe hypercholesterolaemia: Unusual inheritance in an Italian pedigree