De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Autor: Hiatt, Susan M.1, Neu, Matthew B.1,2, Ramaker, Ryne C.1,2, Hardigan, Andrew A.1,2, Prokop, Jeremy W.3, Hancarova, Miroslava4, Prchalova, Darina4, Havlovicova, Marketa4, Prchal, Jan5, Stranecky, Viktor6, Yim, Dwight K. C.7, Powis, Zöe8, Keren, Boris9, Nava, Caroline9, Mignot, Cyril9,10,11, Rio, Marlene10,12, Revah-Politi, Anya13, Hemati, Parisa13, Stong, Nicholas13, Iglesias, Alejandro D.14
Zdroj: PLoS Genetics. 11/30/2018, Vol. 14 Issue 11, p1-16. 16p.
Databáze: Academic Search Ultimate
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