Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.

Ben-Mahmoud, Afif; Al-Shamsi, Aisha M; Ali, Bassam R; Al-Gazali, Lihadh

Ben-Mahmoud, Afif; Al-Shamsi, Aisha M; Ali, Bassam R; Al-Gazali, Lihadh.

Afiliación

Ben-Mahmoud A; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Shamsi AM; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al Ain, United Arab Emirates.
Ali BR; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Gazali L; Zayed Center for Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

J Mol Neurosci ; 70(3): 320-327, 2020 Mar.

Article en En | MEDLINE | ID: mdl-31721002

Asunto(s)

Discapacidades del Desarrollo/genética; Discapacidad Intelectual/genética; Mutación Missense; Niño; Discapacidades del Desarrollo/patología; Células HEK293; Células HeLa; Humanos; Discapacidad Intelectual/patología; Masculino; Transporte de Proteínas

Palabras clave

Intellectual disability; MAST1; Novel candidate gene; Subcellular localization; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Emiratos Árabes Unidos

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