NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1.

Su, S Y; Zhou, X; Pang, X M; Chen, C Y; Li, S H; Liu, J L

Su, S Y; Zhou, X; Pang, X M; Chen, C Y; Li, S H; Liu, J L.

Afiliação

Su SY; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Zhou X; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Pang XM; Department of Rehabilitation, First People's Hospital of Nanning, Nanning, Guangxi, China.
Chen CY; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Li SH; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Liu JL; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.

Genet Mol Res ; 15(2)2016 Apr 07.

Article em En | MEDLINE | ID: mdl-27173220

Assuntos

Mutação da Fase de Leitura; Neurofibromatose 1/genética; Neurofibromina 1/genética; Adolescente; Osso e Ossos/anormalidades; Éxons; Humanos; Masculino; Neurofibromatose 1/diagnóstico

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Neurofibromatose 1 / Neurofibromina 1 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Genet Mol Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: China País de publicação: Brasil

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