Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Journal Article
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Robin, Nathaniel H., Taylor, Clare J., McDonald-McGinn, Donna M., Zackai, Elaine H., Bingham, Peter, Collins, Kevin J., Earl, Dawn, Gill, Deepak, Granata, Tiziana, Guerrini, Renzo, Katz, Naomi, Kimonis, Virginia, Lin, Jean-Pierre, Lynch, David R., Mohammed, Shehla N., Massey, Roger F., McDonald, Marie, Rogers, R. Curtis, Splitt, Miranda, Stevens, Cathy A., Tischkowitz, Marc D., Stoodley, Neil, Leventer, Richard J, Pilz, Daniela T., Dobyns, William B.
Published in American journal of medical genetics. Part A (15.11.2006)
Published in American journal of medical genetics. Part A (15.11.2006)
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Journal Article