A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber conge...
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
CRX
is a transcription factor required for activating the expression of many photoreceptor-neuron genes.
CRX
may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP). The pathogenic mechanism in most cases is likely dominant negative, with gain of function...
Alternative Titles
Full title
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5864841
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5864841
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-018-22704-z
