Exome Sequencing Identifies PDE4D mutations in Acrodysostosis

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Authors	LEE Hane GRAHAM J.M. RIMOIN D.L. LACHMAN R.S. KREJČÍ Pavel TOMPSON S.W. NELSON S.F. KRAKOW D. COHN D.H.
Year of publication	2012
Type	Article in Periodical
Magazine / Source	The American Journal of Human Genetics
MU Faculty or unit	Faculty of Science
Citation
Doi	http://dx.doi.org/10.1016/j.ajhg.2012.03.004
Field	Physiology
Keywords	exome; PDE4D; Acrodysostosis
Description	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.
Related projects:	Podpora výzkumné činnosti studentů v oblasti fyziologie a imunologie živočichů.