A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia-Reference-Cited by-同舟云学术

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Published:2012-09 Issue:3 Volume:91 Page:527-532
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kohl Susanne,Coppieters Frauke,Meire Françoise,Schaich Simone,Roosing Susanne,Brennenstuhl Christina,Bolz Sylvia,van Genderen Maria M.,Riemslag Frans C.C.,Lukowski Robert,den Hollander Anneke I.,Cremers Frans P.M.,De Baere Elfride,Hoyng Carel B.,Wissinger Bernd

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography;Thiadens;Invest. Ophthalmol. Vis. Sci.,2010

2. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel;Kohl;Nat. Genet.,1998

3. Genetic basis of total colourblindness among the Pingelapese islanders;Sundin;Nat. Genet.,2000

4. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21;Kohl;Hum. Mol. Genet.,2000

5. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia;Kohl;Am. J. Hum. Genet.,2002

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