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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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Mary Ann Liebert, Inc. 2013
Fag:
Protein Expression/Modification/Regulation
Online adgang: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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