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Journal article
Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
Tessa, Alessandra
Fiermonte , Giuseppe
Dionisi-Vici , Carlo
Paradies , Eleonora
Baumgartner m, Matthias R.
Chien , Yin-Hsiu
Loguercio , Carmela
de Baulny , Helene Ogier
Nassogne, Marie-Cécile
[UCL]
Schiff , Manuel
Deodato , Federica
Parenti , Giancarlo
Lane Rutledge , S.
Antonia Vilaseca , M.
Melone, Mariarosa A.B.
Scarano , Gioacchino
Aldamiz-Echevarr��a, Luiz
Besley , Guy
Walter , John
Martinez-Hernandez, Eugenia
Hernandez , Jose M.
Pierri , Ciro L.
Palmieri , Ferdinando
Santorelli, Filippo M.
(2009)
Human Mutation — Vol. 30, no. 5, p. 741-748 (2009)