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Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
Rashka, Charif; Hergalant, Sébastien; Dreumont, Natacha; Oussalah, Abderrahim; Camadro, Jean-Michel; Marchand, Virginie; Hassan, Ziad; Baumgartner, Matthias R; Rosenblatt, David S; Feillet, François; Guéant, Jean-Louis; Flayac, Justine; Coelho, David.
Affiliation
  • Rashka C; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Hergalant S; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Dreumont N; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Oussalah A; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Camadro JM; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France.
  • Marchand V; Université Denis Diderot - Paris 7, CNRS, UMR 7592, Paris F-75205, France.
  • Hassan Z; University of Lorraine, CNRS, INSERM, UMS2008, IBSLor, Epitranscriptomics and RNA Sequencing Core Facility, Nancy F-54000, France.
  • Baumgartner MR; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Rosenblatt DS; Radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zürich, Zürich, Switzerland.
  • Feillet F; Department of Human Genetics, McGill University, Montreal, Canada.
  • Guéant JL; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
  • Flayac J; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France.
  • Coelho D; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.
Hum Mol Genet ; 29(12): 1969-1985, 2020 07 29.
Article in En | MEDLINE | ID: mdl-32068834
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Vitamin B 12 / Vitamin B 12 Deficiency Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Francia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Vitamin B 12 / Vitamin B 12 Deficiency Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Francia