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Genetic testing for cone rod dystrophies

Genetic testing for cone rod dystrophies

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7ae1099ebfe476c8c8ac32d980789e7

Genetic testing for cone rod dystrophies

About this item

Full title

Genetic testing for cone rod dystrophies

Publisher

Kayseri: De Gruyter Poland

Journal title

The eurobiotech journal, 2017-10, Vol.1 (s1), p.35-37

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

Identifiers

Primary Identifiers

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

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