Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
| Autor: | Kinnear, Craig1 gkin@sun.ac.za, Glanzmann, Brigitte1, Banda, Eric1, Schlechter, Nikola1, Durrheim, Glenda1, Neethling, Annika1, Nel, Etienne2, Schoeman, Mardelle1, Johnson, Glynis1, van Helden, Paul D.1, Hoal, Eileen G.1, Esser, Monika3, Urban, Michael1, Möller, Marlo1 |
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| Zdroj: | BMC Medical Genetics. 3/14/2017, Vol. 18, p1-11. 11p. |
| Databáze: | Academic Search Ultimate |
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