Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
- Author
- CICCOLELLA, Marianna1 ; CORTI, Stefania2 ; D'AMICO, Adele1 ; RIZZO, Cristiano1 ; COMI, Giacomo Pietro2 ; BERTINI, Enrico1 ; CATTERUCCIA, Michela1 ; PETRINI, Stefania3 ; TOZZI, Giulia1 ; RIZZA, Teresa1 ; CARROZZO, Rosalba1 ; NIZZARDO, Monica2 ; BORDONI, Andreina2 ; RONCHI, Dario2
[1] Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy
[2] Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
[3] Confocal Microscopy Core Facility, Bambino Gesu' Children's Research Hospital, Rome, Italy - Source
Journal of medical genetics. 2013, Vol 50, Num 2, pp 104-107, 4 p ; ref : 20 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Enfant Génétique Maladie Mutation Riboflavine Transport biologique Implication Homme Vitamine B Vitamine
- Keyword (en)
- Child Genetics Disease Mutation Riboflavin Biological transport Human B-Vitamins Vitamin
- Keyword (es)
- Niño Genética Enfermedad Mutación Riboflavina Transporte biológico Hombre Vitamina B Vitamina
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26849332
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1136/jmedgenet-2012-101204 
https://dx.doi.org/10.1136/jmedgenet-2012-101204
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