Novel ARG1 variants identified in a patient with arginase 1 deficiency
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DOI: 10.1038/s41439-021-00139-9
Abstract: 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… read more here.
Keywords: arginase deficiency; arginase; novel arg1; arg1 variants ... See more keywords