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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyVargas, FR; Roessler, E; Gaudenz, K; Belloni, E; Whitehead, AS; Kirke, PN; Mills, JL; Hooper, G; Stevenson, RE; Cordeiro, I; Correia, P; Felix, T; Gereige, R; Cunningham, ML; Canún, S; Antonarakis, SE; Strachan, T; Tsui, LC; Scherer, SW; Muenke, M1998445
Recommendations for a nomenclature system for human gene mutationsAntonarakis, SE; Ashburner, M; Auerbach, AD; Beaudet, AL; Beckmann, JS; Beutler, E; Cooper, DN; Cotton, RGH; Den Dunnen, JT; Desnick, RJ; Eng, C; Fasman, KH; Goldman, D; Hayashi, K; Hutchinson, F; Kazazian Jr, HH; Keen, J; King, MC; Lehvaslaiho, H; McAlpine, PJ; McKusick, V; Motulski, AG; Povey, S; Schorderet, DF; Scriver, CR; Shows Jr, TB; Supertifurga, A; Tay, AHN; Tsui, LC; Valle, D; Vihinen, M1998106
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator proteinCutting, GR; Kasch, LM; Rosenstein, BJ; Zielenski, J; Tsui, LC; Antonarakis, SE; Kazazian Jr, HH1990257
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary diseaseCutting, GR; Kasch, LM; Rosenstein, BJ; Tsui, LC; Kazazian Jr, HH; Antonarakis, SE1990224
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