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A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Hajra, Bibi; Bibi, Nousheen; Syed, Fibhaa; Ullah, Asmat; Ahmad, Wasim.
Afiliação
  • Hajra B; Department of Biochemistry, Faculty of Biological and Health Sciences, Hazara University, Mansehra, KP, Pakistan.
  • Abdullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Bibi N; Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, KP, Pakistan.
  • Syed F; Department of General Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, PIMS, Islamabad, Pakistan.
  • Ullah A; Department of General Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, PIMS, Islamabad, Pakistan; Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Umm-E-Kalsoom; Department of Biochemistry, Faculty of Biological and Health Sciences, Hazara University, Mansehra, KP, Pakistan. Electronic address: kalsoom.u@hu.edu.pk.
An Bras Dermatol ; 98(5): 580-586, 2023.
Article em En | MEDLINE | ID: mdl-37183149
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Sindactilia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Sindactilia Idioma: En Ano de publicação: 2023 Tipo de documento: Article