Found: 12
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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7842, doi. 10.3390/ijms22157842
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- Publication type:
- Article
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29452-9
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- Publication type:
- Article
Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels.
- Published in:
- Journal of Cheminformatics, 2013, v. 5, n. S1, p. 1, doi. 10.1186/1758-2946-5-S1-O18
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- Publication type:
- Article
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 473, doi. 10.1038/ejhg.2014.136
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- Publication type:
- Article
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
- Published in:
- 2018
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- Publication type:
- journal article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
- Published in:
- 2018
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- Publication type:
- journal article
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 13, p. 1218, doi. 10.1093/hmg/ddab117
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- Publication type:
- Article
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3<sub>R427C</sub> and A3<sub>R563C</sub>.
- Published in:
- European Journal of Neuroscience, 2008, v. 27, n. 9, p. 2391, doi. 10.1111/j.1460-9568.2008.06195.x
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- Publication type:
- Article
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 832, doi. 10.1002/humu.24371
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- Publication type:
- Article
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1579, doi. 10.1002/humu.23311
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- Publication type:
- Article
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 830, doi. 10.1002/humu.21283
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- Publication type:
- Article
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1228, doi. 10.1002/humu.20790
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- Publication type:
- Article