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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal, Sibtain; Ramzan, Khushnooda; Ullah, Sajjad; Wakil, Salma M; Jamal, Arshad; Basit, Sulman; Waqar, Ahmed Bilal.
  • Afzal S; Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.
  • Ramzan K; Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh, 11211, Saudi Arabia.
  • Ullah S; Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.
  • Wakil SM; Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh, 11211, Saudi Arabia.
  • Jamal A; Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.
  • Basit S; Center for Genetics and Inherited Diseases, Taibah University, Madinah Al-Munawarah, Medina, Saudi Arabia.
  • Waqar AB; Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan. drabwaqar@yahoo.com.
BMC Med Genet ; 21(1): 20, 2020 01 31.
Article en En | MEDLINE | ID: mdl-32005174
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Piel / Ictiosis Ligada al Cromosoma X / Esteril-Sulfatasa / Tamización de Portadores Genéticos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País como asunto: Asia Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Piel / Ictiosis Ligada al Cromosoma X / Esteril-Sulfatasa / Tamización de Portadores Genéticos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País como asunto: Asia Idioma: En Año: 2020 Tipo del documento: Article