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Novel ARG1 variants identified in a patient with arginase 1 deficiency

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...

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Detalles Bibliográficos
Autores principales:	Yokoi, Katsuyuki, Nakajima, Yoko, Yasui, Toshihiro, Yoshino, Makoto, Yoshikawa, Tetsushi, Kurahashi, Hiroki, Ito, Tetsuya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862390/ https://www.ncbi.nlm.nih.gov/pubmed/33542202 http://dx.doi.org/10.1038/s41439-021-00139-9

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