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Open Access 01-12-2018 | Correspondence

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”

Authors: Edina Poletto, Ursula Matte, Guilherme Baldo

Published in: BMC Medical Genetics | Issue 1/2018

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 importance of proper variant annotation and the use of guidelines when describing or reviewing mutations.

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Kwak M, Huh R, Kim J, Park H, Cho S, Jin D. Report of 5 novel mutations of the α-Liduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I. BMC Med Genet. 2016;17:58.CrossRef

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Title: 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”
Authors: Edina Poletto
Ursula Matte
Guilherme Baldo
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-018-0697-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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”

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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