domingo, 11 de diciembre de 2011

European Journal of Human Genetics - Clinical utility gene card for: Trimethylaminuria

European Journal of Human Genetics advance online publication 30 November 2011; doi: 10.1038/ejhg.2011.214
Clinical utility gene card for: TrimethylaminuriaElizabeth A Shephard1, Eileen P Treacy2,3 and Ian R Phillips4

1Institute of Structural and Molecular Biology, University College London, London, UK
2National Centre for Inherited Metabolic Disorders, Childrens University Hospital, Dublin, Ireland
3Trinity College, Dublin, Ireland
4School of Biological and Chemical Sciences, Queen Mary University of London, London, UK
Correspondence: Professor EA Shephard, Institute of Structural and Molecular Biology, University College London, Gower Street, London WC1E 6BT, UK. Tel: +44 (0)20 7679 2321; Fax: +44 (0)20 7679 7193;

E-mail: e.shephard@ucl.ac.uk; Professor IR Phillips, School of Biological and Chemical Sciences, Queen Mary, University of London, Mile End Road, London E1 4NS, UK. Tel: +44 (0)20 7882 6338; Fax: +44 (0)20 7882 7732; E-mail: i.r.phillips@qmul.ac.uk

1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Trimethylaminuria (fish-odour syndrome, fish malodour syndrome, stale fish syndrome).

1.2 OMIM# of the disease
602079.

1.3 Name of the analysed genes or DNA/chromosome segments
FMO3.

1.4 OMIM# of the gene(s)
136132.

European Journal of Human Genetics - Clinical utility gene card for: Trimethylaminuria

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