Genetic testing for familial hypercholesterolemia-past, present, and future.

Futema, Marta; Taylor-Beadling, Alison; Williams, Maggie; Humphries, Steve E

Futema, Marta; Taylor-Beadling, Alison; Williams, Maggie; Humphries, Steve E.

Afiliação

Futema M; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom; Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.
Taylor-Beadling A; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, London, United Kingdom.
Williams M; Bristol Genetics Laboratory, Bristol, United Kingdom.
Humphries SE; Institute of Cardiovascular Science, University College London, London, United Kingdom. Electronic address: steve.humphries@ucl.ac.uk.

J Lipid Res ; 62: 100139, 2021.

Article em En | MEDLINE | ID: mdl-34666015

Assuntos

Testes Genéticos; Hiperlipoproteinemia Tipo II/genética; Humanos

Palavras-chave

LDL-C; LDLR; SNP score; clinical utility; coronary heart disease; index case; monogenic; next-generation sequencing; polygenic; variants of unknown significance

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Hiperlipoproteinemia Tipo II Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Lipid Res Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google