| 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.
|
