Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (...
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933) variant in the Japanese population
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The phenotypes of
RP1
-related inherited retinal dystrophies (
RP1
-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific
RP1
variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*), is associated with
RP1
-IRD, but the exact role of this mutation...
Alternative Titles
Full title
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933) variant in the Japanese population
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_20870e1eb810428d8db509ca999f6c88
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_20870e1eb810428d8db509ca999f6c88
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-77441-3
