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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin, Siying; Sanchez-Bretaño, Aida; Leslie, Joseph S; Williams, Katie B; Lee, Helena; Thomas, N Simon; Callaway, Jonathan; Deline, James; Ratnayaka, J Arjuna; Baralle, Diana; Schmitt, Melanie A; Norman, Chelsea S; Hammond, Sheri; Harlalka, Gaurav V; Ennis, Sarah; Cross, Harold E; Wenger, Olivia; Crosby, Andrew H; Baple, Emma L; Self, Jay E.
Afiliación
  • Lin S; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.
  • Sanchez-Bretaño A; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Leslie JS; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.
  • Williams KB; Center for Special Children, Vernon Memorial Healthcare, La Farge, WI, USA.
  • Lee H; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Thomas NS; Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Callaway J; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Deline J; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
  • Ratnayaka JA; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Baralle D; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
  • Schmitt MA; Center for Special Children, Vernon Memorial Healthcare, La Farge, WI, USA.
  • Norman CS; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Hammond S; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Harlalka GV; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, USA.
  • Ennis S; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Cross HE; The Rosalind Franklin Institute, Rutherford Appleton Laboratories, Harwell Science and Innovation Campus, Didcot, UK.
  • Wenger O; Center for Special Children, Vernon Memorial Healthcare, La Farge, WI, USA.
  • Crosby AH; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.
  • Baple EL; Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, India.
  • Self JE; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.
NPJ Genom Med ; 7(1): 2, 2022 Jan 13.
Article en En | MEDLINE | ID: mdl-35027574
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2022 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2022 Tipo del documento: Article