sábado, 24 de septiembre de 2011

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

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 14 September 2011; doi: 10.1038/ejhg.2011.172


Clinical utility gene card for: PhenylketonuriaJohannes Zschocke1, Thomas Haverkamp2 and Lisbeth Birk Møller3

1Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
2Laboratory Medicine Dortmund, Dortmund, Germany
3Center for Applied Human Molecular Genetics, Kennedy Center, Glostrup, Denmark
Correspondence: Dr LB Møller, Center for Applied Human Molecular Genetics, Kennedy Center, Gl. Landevej 7, Glostrup DK-2600, Denmark. Tel: +45 43260130; Fax: +45 43431130; E-mail: lbm@kennedy.dk

Top of page1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Phenylketonuria.
Phenylalanine hydroxylase deficiency that requires treatment.
1.2 OMIM# of the disease
261600.
1.3 Name of the analysed genes or DNA/chromosome segments
PAH.


full-text:
European Journal of Human Genetics - Clinical utility gene card for: Phenylketonuria

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