Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedig...
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this is influenced by the function of iron-responsive element-binding protein 2 (IRP2), encoded by the IREB2 gene. Since 2019, three cases of a genetic neurodegenerative syndrome resulting from compound heterozygous mutations in IREB2 have been docu...
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Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree
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TN_cdi_doaj_primary_oai_doaj_org_article_8a703adbe47b43cba60f8dbbb0c0f4d0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8a703adbe47b43cba60f8dbbb0c0f4d0
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03465-7
