Found: 5
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Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
- Published in:
- Scientific Reports, 2016, p. 21307, doi. 10.1038/srep21307
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- Article
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 761, doi. 10.1038/ejhg.2010.11
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- Article
Mapping Labels in the Human Developing Visual System and the Evolution of Binocular Vision.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 31, p. 7232, doi. 10.1523/JNEUROSCI.0802-05.2005
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- Article
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170038
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- Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716
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- Article