martes, 26 de marzo de 2013

European Journal of Human Genetics - Clinical utility gene card for: Achromatopsia - update 2013

FULL-TEXT:
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

Susanne Kohl1 and Christian Hamel2
  1. 1Molecular Genetics Laboratory, Department for Ophthalmology, Institute for Ophthalmic Research, University Tuebingen, Tuebingen, Germany
  2. 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
Top

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

No hay comentarios:

Publicar un comentario