Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

Antzeko izenburuak

• Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
  nork: Azam, Maleeha, et al.
  Argitaratua: (2010)
• Achromatopsia caused by novel missense mutations in the CNGA3 gene
  nork: Chen, Xi-Teng, et al.
  Argitaratua: (2015)
• Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia
  nork: Georgiou, Michalis, et al.
  Argitaratua: (2020)
• Ametropia and Emmetropization in CNGB3 Achromatopsia
  nork: Andersen, Mette Kjøbæk Gundestrup, et al.
  Argitaratua: (2021)
• Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)
  nork: Aligianis, I, et al.
  Argitaratua: (2002)