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Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10341768

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

About this item

Full title

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Publisher

Switzerland: MDPI AG

Journal title

International journal of molecular sciences, 2023-06, Vol.24 (13), p.10670

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Mutations in the photoreceptor-specific
gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with
retinal ciliopathies exhibiting a severe clinical phenotype. Our understanding of the disease process and t...

Alternative Titles

Full title

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10341768

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10341768

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms241310670

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