Original Article
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
Bibi Hajraa, Abdullahb, Nousheen Bibic, Fibhaa Syedd, Asmat Ullahd,e, Wasim Ahmadb, Umm-e-Kalsooma,
Autor para correspondência
a Department of Biochemistry, Faculty of Biological and Health Sciences, Hazara University, Mansehra, KP, Pakistan
b Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
c Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, KP, Pakistan
d Department of General Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, PIMS, Islamabad, Pakistan
e Novo 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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6754
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1982
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