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”

dc.contributor.author	Poletto, Édina	pt_BR
dc.contributor.author	Matte, Ursula da Silveira	pt_BR
dc.contributor.author	Baldo, Guilherme	pt_BR
dc.date.accessioned	2021-05-19T04:32:04Z	pt_BR
dc.date.issued	2018	pt_BR
dc.identifier.issn	1471-2350	pt_BR
dc.identifier.uri	http://hdl.handle.net/10183/221268	pt_BR
dc.description.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.	en
dc.format.mimetype	application/pdf	pt_BR
dc.language.iso	eng	pt_BR
dc.relation.ispartof	BMC medical genetics. London. Vol. 19 (2018), Article number 180, p. 1-2	pt_BR
dc.rights	Open Access	en
dc.subject	IDUA	en
dc.subject	Mutação genética	pt_BR
dc.subject	a-L-iduronidase	pt_BR
dc.subject	704ins5	en
dc.subject	Mucopolissacaridose I	pt_BR
dc.subject	C.613_617dupTGCTC	en
dc.subject	Coréia	pt_BR
dc.subject	China	pt_BR
dc.subject	Japão	pt_BR
dc.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”	pt_BR
dc.type	Artigo de periódico	pt_BR
dc.identifier.nrb	001101789	pt_BR
dc.type.origin	Estrangeiro	pt_BR

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