Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
- Author
- EBBERINK, Merel S1 ; CSANYI, Barbara2 ; WANDERS, Ronald J. A1 ; FIETZ, Michael J4 ; CLAYTON, Peter T2 ; WATERHAM, Hans R1 ; FERDINANDUSSE, Sacha1 ; CHONG, Wui K3 ; DENIS, Simone1 ; SHARP, Peter4 ; MOOIJER, Petra A. W1 ; DEKKER, Conny J. M1 ; SPOONER, Claire5 ; NGU, Lock H6 ; DE SOUSA, Carlos7
[1] Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, Netherlands
[2] Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[3] Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[4] National Referral Laboratory, SA Pathology, North Adelaide, Australia
[5] Starship Children's Hospital, Auckland District Health Board, Auckland, New Zealand
[6] Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia
[7] Department of Neurology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom - Source
Journal of medical genetics. 2010, Vol 47, Num 9, pp 608-615, 8 p ; ref : 19 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Gène Génétique Homme Identification Mutation Peroxysome Variant
- Keyword (en)
- Gene Genetics Human Identification Mutation Peroxisome Variant
- Keyword (es)
- Gen Genética Hombre Identificación Mutación Peroxisoma Variante
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23212118
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/jmg.2009.074302 
https://dx.doi.org/10.1136/jmg.2009.074302
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