Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
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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
Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in
TUBB4B
-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous mi...
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Full title
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
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TN_cdi_doaj_primary_oai_doaj_org_article_8ed648043ce34aba9586e83dd5fbdd7c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8ed648043ce34aba9586e83dd5fbdd7c
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-61019-0
