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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry, David A; Tamayo-Orrego, Lukas; Carroll, Paula; Marsh, Joseph A; Greene, Philip; Murina, Olga; Uggenti, Carolina; Leitch, Andrea; Káposzta, Rita; Mero, Gabriella; Nagy, Andrea; Orlik, Brigitta; Kovács-Pászthy, Balázs; Quigley, Alan J; Riszter, Magdolna; Rankin, Julia; Reijns, Martin A M; Szakszon, Katalin; Jackson, Andrew P.
Afiliación
  • Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Tamayo-Orrego L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Carroll P; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Greene P; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Murina O; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Uggenti C; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Leitch A; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Káposzta R; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Mero G; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Nagy A; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Orlik B; Institute of Pathology, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Kovács-Pászthy B; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Quigley AJ; Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom.
  • Riszter M; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Rankin J; Department Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, United Kingdom.
  • Reijns MAM; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Szakszon K; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.
  • Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
Genes Dev ; 34(21-22): 1520-1533, 2020 11 01.
Article en En | MEDLINE | ID: mdl-33060134
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Primasa / Enanismo / Retardo del Crecimiento Fetal Tipo de estudio: Etiology_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Primasa / Enanismo / Retardo del Crecimiento Fetal Tipo de estudio: Etiology_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido