Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, locat...

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Main Authors: Kohl, Susanne, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G., Wissinger, Bernd
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2002
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Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC379175/
https://ncbi.nlm.nih.gov/pubmed/12077706
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