Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC.
| Autor: | Erzurumluoglu, A. Mesut1 epmmee@bristol.ac.uk, Alsaadi, Muslim M.2, Rodriguez, Santiago1, Alotaibi, Tahani S.2, Guthrie, Philip A. I.1, Lewis, Sian1, Ginwalla, Aasiya1, Gaunt, Tom R.1,3, Alharbi, Khalid K.4, Alsaif, Fahad M.5, Alsaadi, Basma M.5, Day, Ian N. M.1 |
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| Zdroj: | PLoS ONE. Mar2015, Vol. 10 Issue 3, p1-8. 8p. |
| Databáze: | Academic Search Ultimate |
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