Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and neurological, behavioral, and cognitive defects, wit...

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Publicat a:J Lipid Res
Autors principals: Kanuri, Babunageswararao, Fong, Vincent, Ponny, Sithara Raju, Tallman, Keri A., Rao, Sriganesh Ramachandra, Porter, Ned, Fliesler, Steven J., Patel, Shailendra B.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2020
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7890206/
https://ncbi.nlm.nih.gov/pubmed/33410752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.RA120001101
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