Article
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Human mutation - 1 May 2009
Tessa Alessandra, Fiermonte Giuseppe, Dionisi-Vici Carlo, Paradies Eleonora, Baumgartner Matthias R, Chien Yin-Hsiu, Loguercio Carmela, de Baulny Helene Ogier, Nassogne Marie-Cecile, Schiff Manuel, Deodato Federica, Parenti Giancarlo, Rutledge S Lane, Vilaseca M Antonia, Melone Mariarosa A B, Scarano Gioacchino, Aldamiz-Echevarría Luiz, Besley Guy, Walter John, Martinez-Hernandez Eugenia, Hernandez Jose M, Pierri Ciro L, Palmieri Ferdinando, Santorelli Filippo M
Abstract excerpt
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations. Eleven novel mutations were identified including six new missense and one...
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