LEE, Hane, J.M. GRAHAM, D.L. RIMOIN, R.S. LACHMAN, Pavel KREJČÍ, S.W. TOMPSON, S.F. NELSON, D. KRAKOW a D.H. COHN. Exome Sequencing Identifies PDE4D mutations in Acrodysostosis. The American Journal of Human Genetics. Chicago: University of Chicago Press, 2012, roč. 90, č. 4, s. 746-751. ISSN 0002-9297. Dostupné z: https://dx.doi.org/10.1016/j.ajhg.2012.03.004. |
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@article{980988, author = {Lee, Hane and Graham, J.M. and Rimoin, D.L. and Lachman, R.S. and Krejčí, Pavel and Tompson, S.W. and Nelson, S.F. and Krakow, D. and Cohn, D.H.}, article_location = {Chicago}, article_number = {4}, doi = {http://dx.doi.org/10.1016/j.ajhg.2012.03.004}, keywords = {exome; PDE4D; Acrodysostosis}, language = {eng}, issn = {0002-9297}, journal = {The American Journal of Human Genetics}, title = {Exome Sequencing Identifies PDE4D mutations in Acrodysostosis}, volume = {90}, year = {2012} }
TY - JOUR ID - 980988 AU - Lee, Hane - Graham, J.M. - Rimoin, D.L. - Lachman, R.S. - Krejčí, Pavel - Tompson, S.W. - Nelson, S.F. - Krakow, D. - Cohn, D.H. PY - 2012 TI - Exome Sequencing Identifies PDE4D mutations in Acrodysostosis JF - The American Journal of Human Genetics VL - 90 IS - 4 SP - 746-751 EP - 746-751 PB - University of Chicago Press SN - 00029297 KW - exome KW - PDE4D KW - Acrodysostosis N2 - Acrodysostosis is a dominantly inherited disorder. To identify the molecular basis od acrodysostosis we performed exome sequencing on five gnetically independent cases. Three different missense mutations in PDE4D, which endoced cyclic AMP specific phospodiesterases 4D were found to be heterozygous in three of cases. ER -
LEE, Hane, J.M. GRAHAM, D.L. RIMOIN, R.S. LACHMAN, Pavel KREJČÍ, S.W. TOMPSON, S.F. NELSON, D. KRAKOW a D.H. COHN. Exome Sequencing Identifies PDE4D mutations in Acrodysostosis. \textit{The American Journal of Human Genetics}. Chicago: University of Chicago Press, 2012, roč.~90, č.~4, s.~746-751. ISSN~0002-9297. Dostupné z: https://dx.doi.org/10.1016/j.ajhg.2012.03.004.
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