Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family-Reference-Cited by-同舟云学术

Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family

Published:2018-07-17 Issue:2 Volume:57 Page:e23-e26
ISSN:1437-4331
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Pamplona-Cunha Heloisa¹,Campos Elizandra²,de Oliveira Marina V.²,Back Isabela C.³,Sincero Thaís C.M.¹,da Silva Edson L.⁴

Affiliation:

1. Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde , Departamento de Análises Clínicas , Florianópolis, Santa Catarina , Brazil

2. Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas , Florianópolis, Santa Catarina , Brazil

3. Post-Graduate Program in Collective Health, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria , Florianópolis, Santa Catarina , Brazil

4. Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde , Departamento de Análises Clínicas , Bloco J/K. Rua Delfino Conti, s/n – Campus Universitário – Trindade, 88.040-370 , Florianópolis, Santa Catarina , Brazil

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2018-0307/pdf

Reference14 articles.

1. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014;171:309–25.

2. Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S. Genetics of familial hypercholesterolemia. Curr Atheroscler Rep 2015;17:491.

3. Pang J, Lansberg PJ, Watts GF. International developments in the care of familial hypercholesterolemia: where now and where to next? J Atheroscler Thromb 2016;23:505–19.

4. Tatishcheva YA, Mandelshtam MY, Golubkov VI, Lipovetsky BM, Gaitskhoki VS. Four new mutations and two polymorphic variants of the low-density lipoprotein receptor gene in familial hypercholesterolemia patients from St. Petersburg. Genetika 2001;37:1082–6.

5. Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, et al. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. J Appl Genet 2010;51:95–106.