In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. [electronic resource]
Producer: 20191007Description: 2097-2109 p. digitalISSN:- 1098-1004
- Animals
- Child, Preschool
- Drosophila Proteins -- chemistry
- Drosophila melanogaster
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Gonadal Dysgenesis, 46,XY -- genetics
- Hedgehog Proteins -- chemistry
- Heterozygote
- Humans
- Male
- Mutation
- Protein Domains
- Proteolysis
- Species Specificity
- Young Adult
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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