Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong, Karen H Y; Levy-Sakin, Michal; Ma, Walfred; Gonzaludo, Nina; Mak, Angel C Y; Vaka, Dedeepya; Poon, Annie; Chu, Catherine; Lao, Richard; Balamir, Melek; Grenville, Zoe; Wong, Nicolas; Kane, John P; Kwok, Pui-Yan; Malloy, Mary J; Pullinger, Clive R

Wong, Karen H Y; Levy-Sakin, Michal; Ma, Walfred; Gonzaludo, Nina; Mak, Angel C Y; Vaka, Dedeepya; Poon, Annie; Chu, Catherine; Lao, Richard; Balamir, Melek; Grenville, Zoe; Wong, Nicolas; Kane, John P; Kwok, Pui-Yan; Malloy, Mary J; Pullinger, Clive R.

Afiliação

Wong KHY; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Levy-Sakin M; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Ma W; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Gonzaludo N; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Mak ACY; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Vaka D; Lung Biology Center, University of California, San Francisco, CA, USA.
Poon A; Institute for Human Genetics, University of California, San Francisco, CA, USA.
Chu C; Institute for Human Genetics, University of California, San Francisco, CA, USA.
Lao R; Institute for Human Genetics, University of California, San Francisco, CA, USA.
Balamir M; Institute for Human Genetics, University of California, San Francisco, CA, USA.
Grenville Z; Department of Internal Medicine, Istanbul University, Istanbul, Turkey.
Wong N; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Kane JP; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Kwok PY; Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
Malloy MJ; Department of Medicine, University of California, San Francisco, CA, USA.
Pullinger CR; Department of Biochemistry and Biophysics, University of California, San Francisco, CA, USA.

Mol Genet Genomic Med ; 7(12): e1007, 2019 12.

Article em En | MEDLINE | ID: mdl-31617323

Assuntos

LDL-Colesterol/genética; Hiperlipoproteinemia Tipo II/genética; Receptores de LDL/genética; Sequência de Bases/genética; Pré-Escolar; Mapeamento Cromossômico/métodos; Estudos de Coortes; Mutação da Fase de Leitura/genética; Variação Genética/genética; Genoma Humano/genética; Heterozigoto; Homozigoto; Humanos; Lactente; Lipoproteínas LDL/genética; Linhagem; Fenótipo; Análise de Sequência de DNA/métodos; Sequenciamento do Exoma/métodos

Palavras-chave

10xG linked-reads whole genome sequencing; LDL; dyslipidemia; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de LDL / Hiperlipoproteinemia Tipo II / LDL-Colesterol Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

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