Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

@article{Arranz2007EstimationOT,
  title={Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential},
  author={Jos{\'e} Antonio Arranz and Encarnaci{\'o} Riudor and Clara Marco-Mar{\'i}n and Vicente Rubio},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={30},
  pages={217-226}
}
Ornithine transcarbamylase deficiency (OTCD), the X-linked, most frequent urea cycle error, results from mutations in the OTC gene, encoding a 354-residue polypeptide. To date 341 OTCD clinical mutations, including 222 missense single nucleotide changes (mSNCs), have been compiled (Hum Mutat 2006;27:626). OTCD mutation detection might be simplified if the entire repertoire of OTCD-causing mutations were known. We estimate the size of this repertoire from 23 new OTCD patients exhibiting 22… CONTINUE READING

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