Achromatopsia 3
What's New
Last Posted: Aug 12, 2018
- Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh Nicole, et al. Human mutation 2018 8 - Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang Xiaofang, et al. The British journal of ophthalmology 2015 4 (4) 571-6 - Achromatopsia 2
From NCATS Genetic and Rare Diseases Information Center - Achromatopsia 3
From NCATS Genetic and Rare Diseases Information Center - Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA, et al. Ophthalmology 2009 7 - CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl Susanne, et al. European journal of human genetics : EJHG 2005 3 (3) 302-8
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last updated:Sep 21, 2021
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