Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.

Bayona, Ane; Arrieta, Francisco; Rodríguez-Jiménez, Carmen; Cerrato, Francisco; Rodríguez-Nóvoa, Sonia; Fernández-Lucas, Milagros; Gómez-Coronado, Diego; Mata, Pedro

Bayona, Ane; Arrieta, Francisco; Rodríguez-Jiménez, Carmen; Cerrato, Francisco; Rodríguez-Nóvoa, Sonia; Fernández-Lucas, Milagros; Gómez-Coronado, Diego; Mata, Pedro.

Afiliação

Bayona A; Department of Endocrinology and Nutrition, Ramón y Cajal University Hospital.
Arrieta F; Department of Endocrinology and Nutrition, Ramón y Cajal University Hospital.
Rodríguez-Jiménez C; Ramón y Cajal Health Research Institute (IRYCIS).
Cerrato F; CIBER of Pathophysiology of Obesity and Nutrition (CIBEROBN).
Rodríguez-Nóvoa S; Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular.
Fernández-Lucas M; Ramón y Cajal Health Research Institute (IRYCIS).
Gómez-Coronado D; Biochemistry-Research Department, Ramón y Cajal University Hospital.
Mata P; Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular.

Medicine (Baltimore) ; 99(34): e21754, 2020 Aug 21.

Article em En | MEDLINE | ID: mdl-32846800

Assuntos

Hiperlipoproteinemia Tipo II/genética; Pró-Proteína Convertase 9/genética; Adulto; LDL-Colesterol/sangue; Feminino; Humanos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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