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.
|
Authors | Edina Poletto, Ursula Matte, Guilherme Baldo |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 19
Issue 1
Pg. 180
(10 04 2018)
ISSN: 1471-2350 [Electronic] England |
PMID | 30286738
(Publication Type: Letter, Research Support, Non-U.S. Gov't, Comment)
|
Chemical References |
|
Topics |
- China
- Humans
- Iduronidase
(genetics)
- Japan
- Mucopolysaccharidosis I
- Mutation
|