Article
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
DNA and cell biology - 1 Sept 2013
Castro Josué Joram, Méndez Juan Pablo, Coral-Vázquez Ramón Mauricio, Soriano-Ursúa Marvin Antonio, Damian-Matsumura Pablo, Benítez-Granados Jesús, Rosas-Vargas Haydee, Canto Patricia
Abstract excerpt
Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and Δ1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed...
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