Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I"

• Asıl Yazarlar: Edina Poletto (Yazar), Ursula Matte (Yazar), Guilherme Baldo (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the im...