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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

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