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Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith, Claire E L; Poulter, James A; Levin, Alex V; Capasso, Jenina E; Price, Susan; Ben-Yosef, Tamar; Sharony, Reuven; Newman, William G; Shore, Roger C; Brookes, Steven J; Mighell, Alan J; Inglehearn, Chris F.
Afiliação
  • Smith CE; Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds, Leeds, UK.
  • Poulter JA; Leeds Institute of Biomedical and Clinical Sciences, St. James's University Hospital, University of Leeds, Leeds, UK.
  • Levin AV; Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Capasso JE; Children's Hospital of the King's Daughters, Norfolk, VA, USA.
  • Price S; Pediatric Ophthalmology and Ocular Genetics, Philadelphia, PA, USA.
  • Ben-Yosef T; Pediatric Ophthalmology and Ocular Genetics, Philadelphia, PA, USA.
  • Sharony R; Department of Clinical Genetics, Northampton General Hospital, NHS Trust, Northampton, UK.
  • Newman WG; Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Shore RC; The Genetic Institute and Obstetrics and Gynaecology Department, Meir Medical Center, Kfar Saba, Israel.
  • Brookes SJ; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, Manchester, UK.
  • Mighell AJ; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Inglehearn CF; School of Dentistry, Department of Oral Biology, St. James's University Hospital, University of Leeds, Leeds, UK.
Eur J Hum Genet ; 24(11): 1565-1571, 2016 11.
Article em En | MEDLINE | ID: mdl-27302843
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Adenosina Trifosfatases / Mutação de Sentido Incorreto / Amelogênese Imperfeita / Perda Auditiva Neurossensorial / Proteínas de Membrana / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Animals Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Adenosina Trifosfatases / Mutação de Sentido Incorreto / Amelogênese Imperfeita / Perda Auditiva Neurossensorial / Proteínas de Membrana / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Animals Idioma: En Ano de publicação: 2016 Tipo de documento: Article