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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen, Jessie C; Glamuzina, Emma; Taylor, Juliet; Swan, Brendan; Handisides, Shona; Wilson, Callum; Fietz, Michael; van Dijk, Tessa; Appelhof, Bart; Hill, Rosamund; Marks, Rosemary; Love, Donald R; Robertson, Stephen P; Snell, Russell G; Lehnert, Klaus.
Afiliação
  • Jacobsen JC; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Glamuzina E; Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland 1142, New Zealand.
  • Taylor J; Genetic Health Service New Zealand, Auckland City Hospital, Auckland 1142, New Zealand.
  • Swan B; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Handisides S; Department of Radiology, Auckland City Hospital, Auckland 1142, New Zealand.
  • Wilson C; Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland 1142, New Zealand.
  • Fietz M; Department of Biochemical Genetics, SA Pathology, North Adelaide, SA 5006, Australia ; Department of Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia.
  • van Dijk T; Department of Genome Analysis, Academic Medical Centre, 1105 Amsterdam, Netherlands.
  • Appelhof B; Department of Genome Analysis, Academic Medical Centre, 1105 Amsterdam, Netherlands.
  • Hill R; Department of Neurology, Auckland City Hospital, Auckland 1142, New Zealand.
  • Marks R; Developmental Paediatric Service, Starship Children's Health, Auckland 1142, New Zealand.
  • Love DR; Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland 1142, New Zealand.
  • Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
  • Snell RG; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
  • Lehnert K; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.
Case Rep Genet ; 2015: 454526, 2015.
Article em En | MEDLINE | ID: mdl-26587300
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article