A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Anais Brasileiros de Dermatologia - Tập 98 - Trang 580-586 - 2023
Bibi Hajra1, Abdullah2, Nousheen Bibi3, Fibhaa Syed4, Asmat Ullah4,5, Wasim Ahmad2, Umm-e-Kalsoom1
1Department of Biochemistry, Faculty of Biological and Health Sciences, Hazara University, Mansehra, KP, Pakistan
2Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
3Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, KP, Pakistan
4Department of General Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, PIMS, Islamabad, Pakistan
5Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Anais Brasileiros de Dermatologia

Tập 98

580-586

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