Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder

Non-canonical intronic variants are a poorly characterized yet highly prevalent class of alterations associated with Mendelian disorders. Here, we report the first RNA expression and splicing analysis from a family whose members carry a non-canonical splice variant in an intron of RPL11 (c.396+3A>...

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Detaylı Bibliyografya
Yayımlandı:Genomics
Asıl Yazarlar: Panici, Brendan, Nakajima, Hosei, Carlston, Colleen M., Ozadam, Hakan, Cenik, Can, Cenik, Elif Sarinay
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2021
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8266734/
https://ncbi.nlm.nih.gov/pubmed/33862179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2021.04.020
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