Corrigendum to “Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200”
作者
Shama Perveen,Neerja Gupta,Manoj Kumar,Punit Kaur,Madhumita Roy Chowdhury,Madhulika Kabra
This corrigendum corrects the following article. In the article “Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1200”, the authors would like to state that there are two typos that should be corrected in their article and are requesting an addition of a corrigendum to the manuscript. The following errors should be corrected: 1. The variation identified in case no 56 should be c.4098T>G, instead of c.4099T>G in Table 1 on pages 1192–1193, and in the section 3.2.2 novel variants on page 1195. Group1 Variants (frameshift, nonsense, splice site) G1 IIIa c.3526A>T p.Lys1176* Nonsense G47 IIIa G3§ IIIa c.1632dupG p.Asn545Glufs*11 Frame shift G3C§ IIIa G4 IIIa c.1735 + 1G>T Splice variant G9 IIIa c.3755delA p.Asn1252Ilefs*38 Frame shift G26 IIIa G14 IIIa G36 IIIa c.2362_2392 dup31 p.Gly798Alafs*3 Frame shift G37 IIIa c.428G>A p.Trp143* Nonsense G56 IIIa G69 IIIa Group2 variants (missense and compound heterozygous) c.1880A>G p.Asp627Gly Missense c.4331A>G p.Asn1444Ser Missense c.3069G>A, p.Trp1023* Nonsense/ c.4353G>T p.Trp1451Cys Missense c.3083 + 1G>A splice variant c.2362_2392dup31 p.Gly798Alafs*3 Frameshift/ c.3444C>G p.Tyr1148* Nonsense c.4334A>G p.Tyr1445Cys Missense/ c.3444C>G, pTyr1148* Nonsense c.2362_2392dup31 p.Gly798Alafs*3 Frameshift/ c.4334A>G p.Tyr1445Cys Missense 2. Similarly, the second change in the siblings Case nos. G61 and G61C should be c.3444C>G instead of c.3444A>G in Table 1 on pages 1192–1193.