Condition: Carboxypeptidase N Deficiency


rs61751507 in CPN1 gene and Carboxypeptidase N Deficiency PMID 12560874 2003 Among 128 normal Caucasians, the 385fsInsG mutation was absent and the G178D mutation had a frequency of 0.0078, suggesting that these were rare molecular events that likely contributed to the carboxypeptidase N deficiency phenotype.