Description of novel variants in consanguineous Pakistani families affected with intellectual disability.

Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Ahmed, Irfan; Iqbal, Muhammad; Shafqat, Shehla; Anjum, Aftab Ahmad; Shehzad, Wasim

Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Ahmed, Irfan; Iqbal, Muhammad; Shafqat, Shehla; Anjum, Aftab Ahmad; Shehzad, Wasim.

Afiliação

Rasool IG; Molecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Zahoor MY; Molecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan. yasir.zahoor@uvas.edu.pk.
Ahmed I; Molecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.
Iqbal M; Department of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Shafqat S; Department of Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
Anjum AA; Institute of Microbiology, University of Veterinary and Animal Sciences, Lahore, Pakistan.
Shehzad W; Molecular Biology and Biotechnology Section, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, 54000, Pakistan.

Genes Genomics ; 45(4): 457-465, 2023 04.

Article em En | MEDLINE | ID: mdl-35150401

Assuntos

Deficiência Intelectual; Humanos; Consanguinidade; Deficiência Intelectual/genética; Paquistão; Homozigoto; Linhagem; Pentosiltransferases/genética; Proteínas de Transporte Vesicular/genética

Palavras-chave

Consanguinity; Intellectual disability; Mutations; Recessive variants; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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