2Saiki RK, Scharf S, Faloona F, et al. Enzymatic amplification of beta. globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia [J]. Science, 1985, 230(4732): 1350-1354.
3Milosevic D, Rinat C, Batinic D, et al. Genetic analysis-a diagnostic tool for primary hyperoxaluria type I [J]. Pediatr Nephrol, 2002, 17(11) :896-898.
4Pirulli D, Giordano M, Lessi M, et al. Detection of AGXT gene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type I [J]. Clin Exp Med, 2001, 1(2):99-104.
5Rumsby G, Williams E, Coulter-Maekie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias [J]. Kidney Int, 2004, 66(3):959-963.
6Cramer SD, Ferree PM, Lin K, et al. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type Ⅱ [J]. Hum Mol Genet, 1999, 8(11) :2063-2069.
7Cregeen DP, Williams EL, Hulton S, et al. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 [J]. Hum Mutat, 2003, 22(6) :497.
8Webster KE, Ferree PM, Holmes RP, et al. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type Ⅱ (PH2) [J]. Hum Genet, 2000, 107(2) :176-185.
9Goodman HO, Holmes RP, Assimos DG. Genetic factors in calcium oxalate stone disease [J]. J Urol, 1995, 153(2) :301-307.
10Skopkova z, Hrabincova E, Stastna S, et al. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients [J]. Ann Hum Genet, 2005, 69(Pt 5):501-507.