A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

Human Mutation

Volumn 9, Issue 3, 1997, Pages 274-276

  Mavroidis, Nicholas ^a   Traeger Synodinos, Joanne ^a   Kanavakis, Emmanuel ^a   Drogari, Eurydiki ^a   Matsaniotis, Nicholas ^a   Humphries, Steve E ^b   Day, Ian N M ^b   Kattamis, Christos ^a  

^a UNIVERSITY OF ATHENS   (Greece)

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

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; DNA DETERMINATION; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MAPPING; GENE MUTATION; GREECE; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 0030888179     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)9:3<274::aid-humu10>3.0.co;2-%23     Document Type: Article

References (10)

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8. Tybjaerg-Hansen A, Gallagher J, Vincent J, Houlston R, Talmud P, Dunning AM, Seed M, Hamsten A, Humphries SE, Myant NB (1990) Familial defective apolipoprotein B-100: Detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases. Atherosclerosis 80:235-242.
9. Yamamoto T, Davis CG, Brown MS, Scheider WJ, Casey ML, Goldstein JL, Russell DW (1984) The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39:27-38.
10. Whittal R, Gudnason V, Weavind GP, Day LB, Humphries SE, Day INM (1995) Utilities for high throughput use of the single strand conformation polymorphism method: Screening of 791 patients with familial hypercholesterolemia for mutations in exon 3 of the low density lipoprotein receptor gene. J Med Genet 32:509-515.