共 12 条
[1]
[2]
[3]
[4]
[5]
[6]
[7]
Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria[J] Hava Peretz;Meirav Shtauber Naamati;David Levartovsky;Ayala Lagziel;Esther Shani;Ivona Horn;Hanna Shalev;Daniel Landau Molecular Genetics and Metabolism 2007,
[8]
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation[J] Pediatric Nephrology 2005,
[9]
Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II[J] Tetsuya Yamamoto;Yuji Moriwaki;Sumio Takahashi;Zenta Tsutsumi;Ka Tuneyoshi;Kiyoshi Matsui;Jidong Cheng;Toshikazu Hada Metabolism 2003,
[10]
Metabolic Myopathies and Physical Activity[J] Mark A. Tarnopolsky The Physician and Sportsmedicine 2002,

