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A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Khan, S; Ansar, M; Khan, A K; Shah, K; Muhammad, N; Shahzad, S; Nickerson, D A; Bamshad, M J; Santos-Cortez, R L P; Leal, S M; Ahmad, W.
Afiliación
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Khan AK; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Shah K; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Muhammad N; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Shahzad S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Nickerson DA; Department of Biotechnology & Bioinformatics, International Islamic University, Islamabad, Pakistan.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A.
  • Santos-Cortez RLP; Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A.
  • Leal SM; Department of Pediatrics, University of Washington, Seattle, WA, U.S.A.
  • Ahmad W; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.
Br J Dermatol ; 178(2): 556-558, 2018 02.
Article en En | MEDLINE | ID: mdl-28504827

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Autoantígenos / Mutación Missense / Uñas Malformadas Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Br J Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Pakistán

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Autoantígenos / Mutación Missense / Uñas Malformadas Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Br J Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Pakistán