Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes
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DOI: 10.1007/s10792-020-01559-2
Abstract: Purpose Achromatopsia (ACHM) is an autosomal recessive cone disorder characterized by pendular nystagmus, photophobia, reduced visual acuity, and partial or total absence of color vision. Mutations in six genes ( CNGA3 , CNGB3 , GNAT2… read more here.
Keywords: molecular clinical; cnga3 cngb3; disease; thai patients ... See more keywords