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A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N. Riazuddin SA, et al. Among authors: wang y. Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451172 Free PMC article.
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region.
Manickam P, Guru SC, Debelenko LV, Agarwal SK, Olufemi SE, Weisemann JM, Boguski MS, Crabtree JS, Wang Y, Roe BA, Lubensky IA, Zhuang Z, Kester MB, Burns AL, Spiegel AM, Marx SJ, Liotta LA, Emmert-Buck MR, Collins FS, Chandrasekharappa SC. Manickam P, et al. Among authors: wang y. Hum Genet. 1997 Nov;101(1):102-8. doi: 10.1007/s004390050595. Hum Genet. 1997. PMID: 9385379
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Chandrasekharappa SC, et al. Among authors: wang y. Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404. Science. 1997. PMID: 9103196
298,976 results
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