A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

Lobo-Prada, Tanya; Sticht, Heinrich; Bogantes-Ledezma, Sixto; Ekici, Arif; Uebe, Steffen; Reis, André; Leal, Alejandro

Lobo-Prada, Tanya; Sticht, Heinrich; Bogantes-Ledezma, Sixto; Ekici, Arif; Uebe, Steffen; Reis, André; Leal, Alejandro.

Afiliação

Lobo-Prada T; Section of Genetics and Biotechnology, School of Biology, University of Costa Rica, 11501-2060, San Jose, Costa Rica.
Sticht H; Neuroscience Research Center, University of Costa Rica, San Jose, Costa Rica.
Bogantes-Ledezma S; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ekici A; Neurology Department, Hospital San Juan de Dios, San Jose, Costa Rica.
Uebe S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Leal A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

JIMD Rep ; 36: 59-66, 2017.

Article em En | MEDLINE | ID: mdl-28130718

Palavras-chave

Developmental delay; GPT2; Intellectual disability; Missense mutation; Runs of homozygosity; Vineland Social Maturity Scale

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies País/Região como assunto: America central / Costa rica Idioma: En Revista: JIMD Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Costa Rica País de publicação: Estados Unidos

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