Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.

Wallis, Deeann; Li, Kairong; Lui, Hui; Hu, Ke; Chen, Mei-Jan; Li, Jing; Kang, Jungsoon; Das, Shamik; Korf, Bruce R; Kesterson, Robert A

Wallis, Deeann; Li, Kairong; Lui, Hui; Hu, Ke; Chen, Mei-Jan; Li, Jing; Kang, Jungsoon; Das, Shamik; Korf, Bruce R; Kesterson, Robert A.

Afiliación

Wallis D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Li K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Lui H; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Hu K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Li J; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Kang J; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Das S; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
Kesterson RA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.

Hum Mutat ; 39(6): 816-821, 2018 06.

Article en En | MEDLINE | ID: mdl-29522274

Asunto(s)

Variación Genética/genética; Neurofibromatosis 1/genética; Neurofibromina 1/genética; Relación Estructura-Actividad; Animales; Línea Celular; ADN Complementario/genética; Regulación de la Expresión Génica/genética; Técnicas de Silenciamiento del Gen; Pruebas Genéticas; Humanos; Ratones; Mutación/genética; Neurofibromatosis 1/diagnóstico; Neurofibromatosis 1/patología; Transducción de Señal/genética

Palabras clave

cDNA; expression system; functional studies; neurofibromatosis type I; neurofibromin

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Relación Estructura-Actividad / Variación Genética / Neurofibromatosis 1 / Neurofibromina 1 Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Albania

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