Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion

Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a 1.3 Mb deletion at chromosome 17q12. An increase in neurodevelopmental disorders has be...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Clin Epigenetics
Asıl Yazarlar: Clissold, Rhian L., Ashfield, Beth, Burrage, Joe, Hannon, Eilis, Bingham, Coralie, Mill, Jonathan, Hattersley, Andrew, Dempster, Emma L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6052548/
https://ncbi.nlm.nih.gov/pubmed/30021660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-018-0530-z
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller