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Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
Makhdoom, Ehtisham Ul Haq; Anwar, Haseeb; Baig, Shahid Mahmood; Hussain, Ghulam.
Afiliação
  • Makhdoom EUH; Ehtisham ul Haq Makhdoom (MPhil), Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 38000, Faisa
  • Anwar H; Haseeb Anwar (PhD), Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan.
  • Baig SM; Shahid Mahmood Baig (PhD), Department of Biological and Biomedical Sciences, The Aga Khan University, 74000, Karachi, Pakistan. Pakistan Science Foundation, Constitution Avenue, 44000, Islamabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 3800
  • Hussain G; Ghulam Hussain (PhD), Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan.
Pak J Med Sci ; 38(1): 84-89, 2022.
Article em En | MEDLINE | ID: mdl-35035405

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article