Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem, Ahmed B; Halees, Anason S; Anazi, Shamsa; Alshamekh, Shomoukh; Alkuraya, Fowzan S

Alsalem, Ahmed B; Halees, Anason S; Anazi, Shamsa; Alshamekh, Shomoukh; Alkuraya, Fowzan S.

Afiliação

Alsalem AB; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia ; Department of Internal Medicine, College of Medicine, King Saud bin-Abdul-Aziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Halees AS; Molecular Biomedicine Program, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alshamekh S; Department of Ophthalmology, King Abdul-Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PLoS Genet ; 9(12): e1004030, 2013.

Article em En | MEDLINE | ID: mdl-24367280

Assuntos

Consanguinidade; Exoma/genética; Genes Recessivos/genética; Fenótipo; Técnicas de Inativação de Genes; Inativação Gênica; Sequenciamento de Nucleotídeos em Larga Escala; Homozigoto; Humanos; Mutação; Polimorfismo de Nucleotídeo Único

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Consanguinidade / Exoma / Genes Recessivos Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Arábia Saudita

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