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Erratum: the mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)
Author(s) -
Ruf Nico,
Uhlenberg Birgit,
Terkeltaub Robert,
Nürnberg Peter,
Rutsch Frank
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9380
Subject(s) - numbering , biology , histidine , arginine , genetics , mutation , nucleotide , amino acid , algorithm , computer science , gene
The authors report that the nucleotide numbering for two mutations and one amino acid change in family 7 is not correct. The mutations c.2454G>C (p.Asp804His) and c.2496G>A (p.Arg821Pro) should correctly read as c.2410G>C (p.Asp804His) and c.2462G>A (p.Arg821His). Please note that the correct amino acid change at position 821 is Arginine to Histidine. Also, for families 8 and 9, nucleotide numbering for another mutation is listed incorrectly. c.2680C>T (p.Arg888Trp) should correctly read as c.2662C>T (p.Arg888Trp). The errors can be found in the Abstract, Table 1, and in Figure 1. © 2005 Wiley‐Liss, Inc.