Novel ARG1 variants identified in a patient with arginase 1 deficiency

研究成果: Article査読

抄録

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 located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.

本文言語English
論文番号8
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 12-2021

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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