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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet.
Afiliação
  • Tummala H; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK. Electronic address: h.tummala@qmul.ac.uk.
  • Walne A; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK.
  • Buccafusca R; School of Physical and Chemical Sciences, Queen Mary University of London, Mile End, London E1 4NS, UK.
  • Alnajar J; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK.
  • Szabo A; Institute of Ophthalmology, Faculty of Brain Sciences, University College London, 11-43 Bath St, London EC1V 9EL, UK.
  • Robinson P; The Jackson Laboratory for Genomic Medicine, 10 Discovery Dr., Farmington, CT 06032, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, USA.
  • Wilson M; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
  • Crowley S; Department of Paediatrics, St George's Healthcare NHS Trust, London, UK.
  • Kinsler V; Department of Paediatric Dermatology, Great Ormond Street Hospital, The Francis Crick Institute, London, UK.
  • Ewins AM; Haematology/Oncology Department, Royal Hospital for Sick Children, Glasgow, UK.
  • Madapura PM; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK.
  • Patel M; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK.
  • Pontikos N; Institute of Ophthalmology, Faculty of Brain Sciences, University College London, 11-43 Bath St, London EC1V 9EL, UK.
  • Codd V; Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.
  • Vulliamy T; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK.
  • Dokal I; Genomics and Child Health, Blizard Institute, Queen Mary University of London, Newark Street, London E1 2AT, UK; Barts Health NHS Trust, London, UK.
Am J Hum Genet ; 109(8): 1472-1483, 2022 08 04.
Article em En | MEDLINE | ID: mdl-35931051
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidilato Sintase / Disceratose Congênita Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidilato Sintase / Disceratose Congênita Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article