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The molecular basis of glutamate formiminotransferase deficiency

✍ Scribed by John F. Hilton; Karen E. Christensen; David Watkins; Benjamin A. Raby; Yannick Renaud; Susanna de la Luna; Xavier Estivill; Robert E. MacKenzie; Thomas J. Hudson; David S. Rosenblatt

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 58 KB
Volume: 22
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10281

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✦ Synopsis

The authors of this article have learned that the cDNA sequence numbering of the three novel mutations reported in the FTCD gene was incorrect. The authors regret this error but note that the mutations were reported correctly at the protein/amino acid level.

The DNA mutations should have been reported as follows, based on GenBank NM_006657.1 and counting þ 1 as the A of the transcription start codon: c.1033insG should be c.990dupG

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