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SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
Firasat, Sabika; Khan, Wajid Ali; Sughra, Ume; Kaul, Haiba; Naz, Shagufta; Noreen, Bushra; Gul, Rutaba; Afshan, Kiran.
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  • Firasat S; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, 45320, Pakistan. sabika.firasat@qau.edu.pk.
  • Dur-E-Shawar; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, 45320, Pakistan.
  • Khan WA; Cornea Department, Pakistan Institute of Ophthalmology (PIO), Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi, Pakistan.
  • Sughra U; Al-Shifa School of Public Health, Pakistan Institute of Ophthalmology (PIO), Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi, Pakistan.
  • Nousheen; Al-Shifa Research Centre, Pakistan Institute of Ophthalmology (PIO), Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi, Pakistan.
  • Kaul H; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, 45320, Pakistan.
  • Naz S; Genetics Division, Department of Livestock Production, University of Veterinary and Animal Sciences, Ravi Campus, Pattoki, Pakistan.
  • Noreen B; Department of Zoology, Lahore College for Women University, Lahore, Pakistan.
  • Gul R; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, 45320, Pakistan.
  • Afshan K; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, 45320, Pakistan.
Mol Biol Rep ; 48(11): 7467-7476, 2021 Nov.
Article en En | MEDLINE | ID: mdl-34637099
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Antiportadores / Mutación Missense / Proteínas de Transporte de Anión / Pérdida Auditiva Sensorineural Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Mol Biol Rep Año: 2021 Tipo del documento: Article País de afiliación: Pakistán
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Antiportadores / Mutación Missense / Proteínas de Transporte de Anión / Pérdida Auditiva Sensorineural Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Mol Biol Rep Año: 2021 Tipo del documento: Article País de afiliación: Pakistán