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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford, Whitney; Hawkins, Isobel; Glamuzina, Emma; Wilson, Francessa; Marshall, Andrew; Ashton, Fern; Love, Donald R; Taylor, Juliet; Hill, Rosamund; Lehnert, Klaus; Snell, Russell G; Jacobsen, Jessie C.
Afiliação
  • Whitford W; School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Hawkins I; Centre for Brain Research, The University of Auckland, Auckland 1010, New Zealand.
  • Glamuzina E; School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Wilson F; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland 1023, New Zealand.
  • Marshall A; Department of Paediatric Radiology, Starship Children's Hospital, Auckland 1023, New Zealand.
  • Ashton F; Department of Paediatrics and Child Health, Wellington Hospital, Wellington 6021, New Zealand.
  • Love DR; Diagnostic Genetics LabPLUS, Auckland City Hospital, Auckland 1023, New Zealand.
  • Taylor J; Diagnostic Genetics LabPLUS, Auckland City Hospital, Auckland 1023, New Zealand.
  • Hill R; Genetic Health Service New Zealand, Auckland City Hospital, Auckland 1023, New Zealand.
  • Lehnert K; Department of Neurology, Auckland City Hospital, Auckland 1023, New Zealand.
  • Snell RG; School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Jacobsen JC; Centre for Brain Research, The University of Auckland, Auckland 1010, New Zealand.
Cold Spring Harb Mol Case Stud ; 3(6)2017 Nov.
Article em En | MEDLINE | ID: mdl-28696212
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Doenças dos Gânglios da Base Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Nova Zelândia
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Doenças dos Gânglios da Base Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Nova Zelândia