Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
| Autor: | Macia, Maxence S.1,2, Halbritter, Jan3,4, Delous, Marion1,2, Bredrup, Cecilie5,6, Gutter, Arthur1,2, Filhol, Emilie1,2, Mellgren, Anne E.C.5,6,7, Leh, Sabine7,8, Bizet, Albane1,2, Braun, Daniela A.3, Gee, Heon Y.3, Silbermann, Flora1,2, Henry, Charline1,2, Krug, Pauline1,2,9, Bole-Feysot, Christine2,10, Nitschké, Patrick2,11, Joly, Dominique12, Nicoud, Philippe13, Paget, André13, Haugland, Heidi14 |
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| Zdroj: | American Journal of Human Genetics. Feb2017, Vol. 100 Issue 2, p323-333. 11p. |
| Databáze: | Academic Search Ultimate |
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