Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mariana B. Angulo"'
Autor:
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded
Externí odkaz:
https://doaj.org/article/f794ec56edff47938221c71b1ce133d7
Autor:
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald
Publikováno v:
Molecular geneticsgenomic medicineREFERENCES.
Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded protein frataxin. FR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b510791445598bcc2ff34a33d36b3c
https://pubmed.ncbi.nlm.nih.gov/36369844
https://pubmed.ncbi.nlm.nih.gov/36369844