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.

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 en En | MEDLINE | ID: mdl-27173220

Asunto(s)

Mutación del Sistema de Lectura; Neurofibromatosis 1/genética; Neurofibromina 1/genética; Adolescente; Huesos/anomalías; Exones; Humanos; Masculino; Neurofibromatosis 1/diagnóstico

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article

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