Novel ARG1 variants identified in a patient with arginase 1 deficiency
Novel ARG1 variants identified in a patient with arginase 1 deficiency
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London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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We report a case of a 13-year
-
old boy with arginase 1 deficiency carrying a new variant in
ARG1
. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is l...
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Full title
Novel ARG1 variants identified in a patient with arginase 1 deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_ad3eb7bc1a3948c495d974155fbaab48
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ad3eb7bc1a3948c495d974155fbaab48
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-021-00139-9
