In Vitro and Molecular Modeling Analysis of Two Mutant Desert Hedgehog Proteins Associated with 46,XY Gonadal Dysgenesis

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 performe...

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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Mary Ann Liebert, Inc. 2013
Ämnen:
Protein Expression/Modification/Regulation
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3753129/
https://ncbi.nlm.nih.gov/pubmed/23786321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/dna.2013.2052
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