Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region...

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Detalles Bibliográficos
Autores principales: Silva, Gerda Cristal Villalba, Borsatto, Taciane, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2022
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8846296/
https://www.ncbi.nlm.nih.gov/pubmed/35167647
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8846296/
https://www.ncbi.nlm.nih.gov/pubmed/35167647
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0432

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