Erratum to “High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)” [Journal of Cystic Fibrosis 6(2007)371–375]
2008; Elsevier BV; Volume: 7; Issue: 5 Linguagem: Inglês
10.1016/j.jcf.2008.02.008
ISSN1873-5010
AutoresKatrien Storm, Els Moens, Lieve Vits, Haike De Vlieger, Gino Delaere, Maria D'Hollander, Wim Wuyts, Martine Biervliet, L. Van Schil, Kristine Desager, Markus M. Nöthen,
Tópico(s)Cystic Fibrosis Research Advances
ResumoThe publisher regrets that a typing error has occurred in the above mentioned article relating to the name of one of the three new mutations identified in this study. Instead of 1671insTATCA it must be:- according to the old nomenclature: 1651insTATCA or 1651_1652insTATCA (standard numbering scheme for CF).- according to the new nomenclature (nomenclature system as proposed by www.hgvs.org): c.1515_1519dupTATCA (p.Phe508SerfsX21) (with a stop at codon 528) (numbering according to GenBank NM_000492 with A of the start codon as position +1). The mutant sequence is: ATT AAA GAA AAT ATC ^A|ta tca| TCT TTG GTG TTT CCT ATG ATG AAT ATA GAT ACA GAA GCG TCA TCA AAG CAT GCC AAC TAG The caret marks the start of codon 507, the inserted bases are shown in bold and lower case, and the premature termination codon is underlined. At protein level the first affected amino acid is at codon 508. High incidence of the CFTR mutations 3272-26A→G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A→G, E588V, and 1671insTATCA)Journal of Cystic FibrosisVol. 6Issue 6PreviewWe have analyzed 143 unrelated Belgian patients with a positive diagnosis of cystic fibrosis (CF) for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. An initial screening for 29 CFTR mutations led to mutation identification in 89.9% of the tested chromosomes. Subsequently an extensive analysis of the CFTR gene was performed by denaturating gradient gel electrophoresis (DGGE) in those patients with at least one unknown mutation after preliminary screening. In addition to 10 previously reported mutations we identified 2 new mutations 186-2A→G and E588V. Full-Text PDF Open Archive
Referência(s)