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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2013
Assuntos:
Protein Expression/Modification/Regulation
Acesso em linha: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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