4Trebicz-Geffen M, Robinson D, Evron Z, et al. The molecular and cellular basis of exostosis formation in hereditary multiple exostoses[J]. Int J Exp Pathol, 2008,89(5) : 321-331.
6Ciavarella M, Coco M, Baorda F, et al. 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostie screening in a large Italian cohort of patients affected by hereditary multiple exostosis [J]. Gene, 2013,515(2) :339-348.
7Wang X, Li L, Li J, et al. Pathogenic gene screening and mutation detection in Chinese family with multiple osteochondroma [J]. Genet Test Mol Biomarkers ,2012,16(7) : 827-832.
9SfarS, Abid A, Mahfoudh W, et al. Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift nmtation in the EXTI gene [J]. Mol Biol Rep,2009,36 (4):661 - 667.
10Yang L, Hui WS, Chan WC, et al. A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas [J] J Orthop Res, 2010,28 ( 11 ) : 1522-1530.
二级参考文献37
1Amar A,Brautbar C,Motro U,et al.Genetic variation of three tetrameric tandem repeats in four distinct Israeli ethnic gronps[J].J Forensic Sci,1999,44(5):983-986.
2Wuyts W,Van HW.Molecular basis of multiple exostoses:mutations in the EXT1 and EXT2 genes[J].Hum Mutat,2000,15(3):220-227.
3Cook A,Raskind W,Blanton SH,et al.Genetic heterogeneity in families with hereditary multiple exostoses[J].Am J Hum Genet,1993,53(1):71-79.
4Wu YQ,Heutink P,Vries BB,et al.Assignment of a second locus for multiple exostoses to the perieentromerie region of chromosome 11[J].Hum Mol Genet,1994,3(1):167-171.
5Le MM,Legeai ML,Jeannin PM,et al.A gene for hereditary multiple exostoses maps to chromosome 19p[J].Hum Mol Genet,1994,3(5):717-722.
6Pei YY,Wang YM,Huang WJ,et al.Novel Mutations of EXT1 and EXT2 genes among Families and Sporadic Cases with Multiple Exostoses[J].Genet Test Mol Biomarkers,2010,14(6):865-872.
8Chasman D,Adams RM.Predicting the functional consequences of nonsynonymous single nucleotide polymorphisms:structure-based assessment of amino acid variation[J].JMB,2001,307(2):683-706.
9Sunyaev S,Ramensky V.Koch I,et al.Prediction of deleterious human alleles.Hum Mol Genet,2001,10(6):591-597.