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TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature by Alessandra Splendore; Roberto D. Fanganiello; Cibele Masotti; Lucas S.C. Morganti; M. Rita Passos-Bueno is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature about?

## Communicated by Marc Greenblatt Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br/TCOF1 \_ database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene.

Who reads TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature?

Author

Alessandra Splendore; Roberto D. Fanganiello; Cibele Masotti; Lucas S.C. Morganti; M. Rita Passos-Bueno

Publisher

Hindawi Limited

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)