Familial hypercholesterolemia in Brazil

Atherosclerosis Supplements

Volumn 4, Issue 3, 2003, Pages 1-2

  Dos Santos, J E ^a   Zago, M A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Brazilian; Familial hypercholesterolemia; LDL R; Mutation screening

Indexed keywords

CLINICAL RESEARCH; ETHNIC GROUP; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE LOSS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; PRIORITY JOURNAL; SHORT SURVEY;

EID: 1242341458     PISSN: 15675688     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1567-5688(03)00026-6     Document Type: Article

References (11)

1. Zago M.A., Costa F.F., Tone L.G., Bottura C. Hereditary hemoglobin disorders in a Brazilian population. Hum. Hered. 33:1983;125-139.
2. Zago M.A., Costa F.F. Hereditary hemoglobin disorders in Brazil. Trans. R. Soc. Trop. Med. Hyg. 79:1985;385-388.
3. Azevedo E.S., Silva K.M., da Silva M.C., Lima A.M., Fortuna C.M., Santos M.G. Genetic and antrhopological studies in the island of Itaparica Bahia, Brazil. Hum. Hered. 31:1981;353-357.
4. Santos SEB, Guerreiro JF. The Indigenous contribuition to formation of the population of Brazilian Amazon region. Rev Brazil Genet 1995;311-5.
5. Figueiredo M.S., Santos J.E., Alberto F.L., Zago M.A. High frequency of the Lebanese allele of the LDL-R gene among Brazilian patients with familial hypercholesterolemia. J. Med. Genet. 29:1992;813-815.
6. Alberto F.L., Fiqueiredo M.S., Zago M.A., Araujo A.G., Santos J.E. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil. Braz. J. Med. Biol. Res. 32(6):1999;739-745.
7. Leitersdorf E., Chakravarti A., Hobbs H.H. Polymorphic DNA haplotypes at the LDL Receptor locus. Am. J. Hum. Genet. 44:1989;409-421.
8. Oppenheimer A., Friedlander Y., Dann E.J., Berkman N., Schwartz S.P., Leitersdorf E. Hypercholesterolemia in five Israeli Christian-Arab kindreds is cased by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor. Hum. Genet. 88:1991;75-84.
9. Lehrman M.A., Schneider W.J., Brown M.S., Davies C.G., Elhamer A., Russell D.W.et al. The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J. Biol. Chem. 262:1987;401-410.
10. Inocencio M.T., Silva W.A., Costa M.C.R., Hotta J.K.S., Santos J.E., Zapo M.A. Molecular Characterization of the LDL Receptor Gere in patients with Familial Hypercholesterolemia. Am. J. Hum. Gen. 69(4 Suppl. 1):2001;27.17.
11. Salazar LA, Hirata MH, Cavalli SA, Nakanda Kare ER, Forti N, Diamert J, Gianini SD, Bertolami MC, Hirata RDC. Molecular basis of familial hypercholesterolemia in Brazil: identification of seven novel LDL-R gene mutations. Human Mutations, 2002 Online.