Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.

Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Iqbal, Muhammad; Anjum, Aftab Ahmad; Ashraf, Fatima; Abbas, Hafiz Qamar; Baig, Hafiz Muhammad Azhar; Mahmood, Tariq; Shehzad, Wasim

Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Iqbal, Muhammad; Anjum, Aftab Ahmad; Ashraf, Fatima; Abbas, Hafiz Qamar; Baig, Hafiz Muhammad Azhar; Mahmood, Tariq; Shehzad, Wasim.

Afiliación

Rasool IG; Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Zahoor MY; Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan. yasir.zahoor@uvas.edu.pk.
Iqbal M; Department of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Anjum AA; Institute of Microbiology, University of Veterinary and Animal Sciences, Lahore, Pakistan.
Ashraf F; Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Abbas HQ; Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Baig HMA; Department of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Mahmood T; Department of Statistics and Computer Science, University of Veterinary and Animal Sciences, Lahore, Pakistan.
Shehzad W; Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.

Genes Genomics ; 43(5): 503-512, 2021 05.

Article en En | MEDLINE | ID: mdl-33710595

Asunto(s)

Discapacidad Intelectual/genética; Mutación; Adulto; Niño; Colágeno Tipo XVIII/genética; Consanguinidad; Femenino; Humanos; Discapacidad Intelectual/patología; Péptidos y Proteínas de Señalización Intercelular/genética; Masculino; Linaje; Fenotipo; Proteínas Tirosina Quinasas/genética; Proteínas Proto-Oncogénicas/genética; Receptores de Glutamato Metabotrópico/genética; Secuenciación del Exoma

Palabras clave

Consanguineous; Intellectual disability; Mutations; Pakistani population; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Genes Genomics Año: 2021 Tipo del documento: Article País de afiliación: Pakistán

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