Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.Peer-Reviewed Original Research