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Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Han, Ji Hoon; Ryan, Gavin; Guy, Alyson; Liu, Lu; Quinodoz, Mathieu; Helbling, Ingrid; Lai-Cheong, Joey E; Barwell, Julian; Folcher, Marc; McGrath, John A; Moss, Celia; Rivolta, Carlo.
Afiliação
  • Han JH; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.
  • Ryan G; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.
  • Guy A; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.
  • Liu L; Viapath, St Thomas' Hospital, London SE1 7EH, UK.
  • Quinodoz M; Viapath, St Thomas' Hospital, London SE1 7EH, UK.
  • Helbling I; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.
  • Lai-Cheong JE; Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.
  • Barwell J; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK.
  • Folcher M; Frimley Park NHS Foundation Trust, Camberley GU16 7UJ, UK.
  • Moss C; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.
  • Rivolta C; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK.
Hum Mol Genet ; 31(12): 1970-1978, 2022 06 22.
Article em En | MEDLINE | ID: mdl-34999892
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribossomos / Dermatopatias / Doenças do Cabelo Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribossomos / Dermatopatias / Doenças do Cabelo Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça