High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populati...
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Contents
CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patie...
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Full title
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3637806
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3637806
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-20
