The phenotypic variability of HK1-associated retinal dystrophy
The phenotypic variability of HK1-associated retinal dystrophy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present stud...
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Full title
The phenotypic variability of HK1-associated retinal dystrophy
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TN_cdi_doaj_primary_oai_doaj_org_article_5fb3890276534bc0b43f0cb5ca6410ac
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5fb3890276534bc0b43f0cb5ca6410ac
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-07629-3
