Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1537, Issue 1, 2001, Pages 42-48

  Lapicka Bodzioch, Katarzyna ^a,c   Bodzioch, Marek ^a,c   Krüll, Matthias ^b   Kielar, Danuta ^a   Probst, Mario ^a   Kiec, Beata ^a,c   Andrikovics, Hajnalka ^a   Böttcher, Alfred ^a   Hubacek, Jaroslav ^d   Aslanidis, Charalampos ^a   Suttorp, Norbert ^b   Schmitz, Gerd ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^d INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

Author keywords

ABCA1; Familial high density lipoprotein deficiency; Genetic testing; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; MESSENGER RNA; PRIMER DNA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; TANGIER DISEASE;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; DNA PRIMERS; HUMANS; HYPOLIPOPROTEINEMIAS; LIPOPROTEINS, HDL; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 0035958629     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00053-9     Document Type: Article

References (11)

1. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
2. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
3. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
4. Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds
5. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway
6. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
7. Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred
8. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): Evidence for sterol-dependent regulation in macrophages
9. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy
10. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice
11. Common and rare ABCA1 variants affecting plasma HDL cholesterol