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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
Author(s) -
Rossi Antonio,
SuperiFurga Andrea
Publication year - 2001
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.1152
Subject(s) - genetics , biology , mutation , phenotype , gene
( Article was originally published in Human Mutation 17:159–171, 2001 ) 1. Figure 2 reports a deletion 933 del T. This should be corrected to 933‐934 del CT (compare with Table 1, where mutation is reported correctly). 2. Both Table 1 and Figure 2 report a mutation 430C>A (Q135R). This should be corrected to 430C>A (Q135K), as lysine, not arginine, is the codon resulting from the mutation.
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