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.

@article{Kohl2000MutationsIT,
  title={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.},
  author={Susanne Kohl and Britta Baumann and Martina Broghammer and Herbert Jaegle and Paul A. Sieving and Ulrich Kellner and R Spegal and Mario Anastasi and Eberhart Zrenner and Lindsay T. Sharpe and Bernd Wissinger},
  journal={Human molecular genetics},
  year={2000},
  volume={9 14},
  pages={2107-16}
}
Achromatopsia is an autosomal recessive disorder featuring total colour blindness, photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on chromosome 2q11 are responsible for achromatopsia in a subset of patients, previous linkage studies have localized another achromatopsia locus, ACHM3, on chromosome 8q21. Using achromatopsia families in which CNGA3 mutations have been excluded, we refined the ACHM3 locus to a 3.7 cM region enclosed by markers D8S1838 and D8S273… CONTINUE READING
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