Publications:

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

Genetics And Molecular Biology

Silva, Gerda Cristal Villalba GCV; Borsatto, Taciane T; Schwartz, Ida Vanessa Doederlein IVD; Sperb-Ludwig, Fernanda F

Publication Date: 2022

Variant appearance in text: PC: 1629C>A; Asp543Glu

PubMed Link: 35167647

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20200432.pdf

View BVdb publication page

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Bmc Medical Genetics

Borsatto, Taciane T; Sperb-Ludwig, Fernanda F; Pinto, Louise L C LL; Luca, Gisele R De GR; Carvalho, Francisca L FL; Souza, Carolina F M De CF; Medeiros, Paula F V De PF; Lourenço, Charles M CM; Lo Filho, Reinaldo R; Neto, Eurico C EC; Bernardi, Pricila P; Leistner-Segal, Sandra S; Schwartz, Ida V IV

Publication Date: 2014-09-01

Variant appearance in text: PC: 1629C>A; D543E

PubMed Link: 25174816

Variant Present in the following documents:

• s12881-014-0096-3.pdf

View BVdb publication page