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159 results
  1. ... Institute) Also in Spanish Clinical Trials ClinicalTrials.gov: Color Vision Defects (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  2. ... Allelic Disorders (Not in the Differential Diagnosis of Achromatopsia) View in own window Gene Disorder Reference CNGB3 Macular degeneration Nishiguchi et al [2005] GNAT2 ...
  3. ... ACHROMATOPSIA 2; ACHM2 RETINAL CONE DYSTROPHY 3A; RCD3A ACHROMATOPSIA 4; ACHM4 CONE DYSTROPHY 4; COD4 Scientific Articles on PubMed PubMed References Chang B, Grau T, Dangel S, Hurd R, Jurklies ...
  4. ... CNGA3 Gene and Variant Databases NCBI Gene ClinVar References Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and ...
  5. ... CNGB3 Gene and Variant Databases NCBI Gene ClinVar References Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and ...
  6. ... GNAT2 Gene and Variant Databases NCBI Gene ClinVar References Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline ...
  7. ... PDE6C Gene and Variant Databases NCBI Gene ... basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc ...
  8. ... PDE6H Gene and Variant Databases NCBI Gene ... mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91( ...
  9. ... coloured tissue, due to absence of pigment. In reference to the skin, achroma is synonymous with leucoderma, albinism, and alphosis. See Pigmentary Skin-Diseases. ACHROMATOPSIA, (a priv.; ypwpa, colour ; and ar^, sight).-More ...
  10. ... coloured tissue, due to absence of pigment. In reference to the skin Achroma is synonymous with Leucoderma, Albinism, and Alphosis. See Pigmentary Skin-Diseases. ACHROMATOPSIA (a, priv. ; colour; and sight).-More or less ...
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