| 19242930 |
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study
Tessa, A,
Fiermonte, G,
Dionisi-Vici, C,
Paradies, E,
Baumgartner, MR,
Chien, YH,
Loguercio, C,
de Baulny, HO,
Nassogne, MC,
Schiff, M,
Deodato, F,
Parenti, G,
Rutledge, SL,
Vilaseca, MA,
Melone, MA,
Scarano, G,
Aldamiz-EchevarrÃa, L,
Besley, G,
Walter, J,
Martinez-Hernandez, E,
Hernandez, JM,
Pierri, CL,
Palmieri, F,
Santorelli, FM
|
Hum Mutat |
2009 |
| 11355015 |
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
Miyamoto, T,
Kanazawa, N,
Kato, S,
Kawakami, M,
Inoue, Y,
Kuhara, T,
Inoue, T,
Takeshita, K,
Tsujino, S
|
J Hum Genet |
2001 |
