Genetic testing for cone rod dystrophies
Genetic testing for cone rod dystrophies
About this item
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Author / Creator
Publisher
Kayseri: De Gruyter Poland
Journal title
Language
English
Formats
Publication information
Publisher
Kayseri: De Gruyter Poland
More information
Scope and Contents
Contents
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, R...
Alternative Titles
Full title
Genetic testing for cone rod dystrophies
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e7ae1099ebfe476c8c8ac32d980789e7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7ae1099ebfe476c8c8ac32d980789e7
Other Identifiers
ISSN
2564-615X
E-ISSN
2564-615X
DOI
10.24190/ISSN2564-615X/2017/S1.11