A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

BACKGROUND: Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Cattaneo, Monica, La Sala, Lucia, Rondinelli, Maurizio, Errichiello, Edoardo, Zuffardi, Orsetta, Puca, Annibale Alessandro, Genovese, Stefano, Ceriello, Antonio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2017
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729406/
https://ncbi.nlm.nih.gov/pubmed/29237418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0508-2
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