European Journal of Human Genetics - Clinical utility gene card for: Achromatopsia - update 2013
Clinical Utility Gene Card Update
European Journal of Human Genetics advance online publication 13 March 2013; doi: 10.1038/ejhg.2013.44
Clinical utility gene card for: Achromatopsia - update 2013
- 1Molecular Genetics Laboratory, Department for Ophthalmology, Institute for Ophthalmic Research, University Tuebingen, Tuebingen, Germany
- 2Genetics and Therapy of Retinal and Optic Nerve Blindness, INSERM U583, Institut des Neurosciences, Montpellier, France
Correspondence: Dr S Kohl, Molecular Genetics Laboratory, Department for Ophthalmology, Institute for Ophthalmic Research, University Tuebingen, Roentgenweg 11, 72076 Tuebingen, Germany. Tel: +49 7071 29 80702; Fax: +49 7071 29 5725; E-mail: Susanne.kohl@uni-tuebingen.de
Update to: European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2010.231; published online 26 January 2011
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1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Complete or incomplete Achromatopsia, rod monochromatism, rod monochromacy, complete or incomplete colour blindness, pingelapese blindness.
1.2 OMIM# of the disease
ACHM2 216900, ACHM3 262300, ACHM4 139340, ACHM5 613093, RCD3A/ACHM5 610024.
1.3 Name of the analysed genes or DNA/chromosome segments
CNGB3, Chr. 8q21-q22
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