7Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment[J].Nat Genet,1998,20(4):370-373.
8Gao B,Guo J,She C,et al.Mutations in IHH,encoding Indian hedgehog,cause brachydactyly type A-1[J].Nat Genet,2001,28(4):386-388.
9Gao B,Hu J,Stricker S,et al.A mutation in lhh that causes digit abnormalities alters its signalling capacity and range[J].Nature,2009,458(7242):1196-1200.
1Mau W, Zeidler H, Mau R. Clinical features and prognosis of patients with possible ankylosing spondylitis: Results of a 10-year followup. J Rheumatol, 1998,15(5) : 1109 - 1114.
2Brown M A, Kennedy L G, MacGregor A J, Darke C, Duncan E, Shatford J L, Taylor A, Calin A, Wordsworth P. Susceptibility to ankylosing spondylitis in twins : The role of genes, HLA, and the environment. Arthritis Rheum, 1997,40(10) : 1823 - 1828.
3Brown M A, Pile K D, Kennedy L G, Campbell D, Andrew L, March R, Shatfort J L, Weeks D E, Calin A, Wordsworth P. A Genome-wide screen for susceptibility loci in ankylosing spondylitis. Arthritis Rheum, 1998,41 (4) :588 - 595.
4Laval S H, Timms A, Edwards S, Bradbury L, Brophy S, Milicic A,Rubin L, Siminovitch K A, Weeks D E, Calin A, Wordsworth B P, Browm M A. Whole-genome screening in ankylosing spondylitis:evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet,2001,68(4) :918 - 926.
5van der Linden S, Valkenburg H, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis : A proposal for modification of the New York criteria. Arthritis Rheum, 1984,27(3) : 361 - 368.
6Lathrop G M, Lalouel J M, White R L. Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis. Genet Epidemiol, 1986,3( 1 ) : 39 - 52.
7Kruglyak L, Daly M J, Reeve-Daly M P, Lander E S. Parametric and Nonparametric linkage analysis : A unified multipoint approach. Am J Hum Genet, 1996,58(6):1347- 1363.
8Ng SB, Buckingham KJ, Lee C, et aL Exome sequencing identifies the cause of a mendelian disorder [ J ]. Nat Genet, 2010, 42 (1) : 30 - 35.
9Turnbull C, Ahmed S, Morrison J, et al. Genome-wide association study identifies five new breast cancer susceptibility loci[J].Nat Genet, 2010, 42(6) : 504 -507.
10Wu XL, Gu MM, Huang L, et al. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene[J]. Am J Hum Genet, 2009, 85(1): 53-63.
