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TypeTitleAuthor(s)YearViews
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Vargas, 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, M1998509
 
Recommendations for a nomenclature system for human gene mutations
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Antonarakis, 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, M1998166
 
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Cutting, GR; Kasch, LM; Rosenstein, BJ; Zielenski, J; Tsui, LC; Antonarakis, SE; Kazazian Jr, HH1990340
 
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
Journal:
New England Journal of Medicine
Publisher:
Massachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Cutting, GR; Kasch, LM; Rosenstein, BJ; Tsui, LC; Kazazian Jr, HH; Antonarakis, SE1990262
 
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