High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
| Autor: | Kohlhase J; Institute for Human Genetics and Anthropology, University of Freiburg, Breisacher Str. 33, 79106 Freiburg, Germany. jkohlha@ukl.uni-freiburg.de, Liebers M, Backe J, Baumann-Müller A, Bembea M, Destrée A, Gattas M, Grüssner S, Müller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC |
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| Jazyk: | angličtina |
| Zdroj: | Journal of medical genetics [J Med Genet] 2003 Nov; Vol. 40 (11), pp. e127. |
| DOI: | 10.1136/jmg.40.11.e127 |
| Databáze: | MEDLINE |
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