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Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
Shah, S A; Raheem, N; Daud, S; Mubeen, J; Shaikh, A A; Baloch, A H; Nadeem, A; Tayyab, M; Babar, M E; Ahmad, J.
Affiliation
  • Shah SA; Institute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan.
  • Raheem N; Medical Centre, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, Pakistan.
  • Daud S; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.
  • Mubeen J; Institute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan.
  • Shaikh AA; Department of Computer Sciences, BUITEMS, Quetta, Pakistan.
  • Baloch AH; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.
  • Nadeem A; Institute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan.
  • Tayyab M; Institute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan.
  • Babar ME; Department of Livestock Production, Faculty of Animal Production and Technology, University of Veterinary and Animal Sciences (UVAS), Lahore, Pakistan.
  • Ahmad J; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.
Clin Exp Dermatol ; 40(7): 774-80, 2015 Oct.
Article in En | MEDLINE | ID: mdl-25703744
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Full text: 1 Database: MEDLINE Main subject: Membrane Transport Proteins / Albinism, Oculocutaneous / Monophenol Monooxygenase / Founder Effect / Mutation, Missense / Asian People / Antigens, Neoplasm Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Year: 2015 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Membrane Transport Proteins / Albinism, Oculocutaneous / Monophenol Monooxygenase / Founder Effect / Mutation, Missense / Asian People / Antigens, Neoplasm Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Year: 2015 Type: Article