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...

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Detalles Bibliográficos
Autores principales: Clissold, Rhian L., Ashfield, Beth, Burrage, Joe, Hannon, Eilis, Bingham, Coralie, Mill, Jonathan, Hattersley, Andrew, Dempster, Emma L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052548/
https://www.ncbi.nlm.nih.gov/pubmed/30021660
http://dx.doi.org/10.1186/s13148-018-0530-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052548/
https://www.ncbi.nlm.nih.gov/pubmed/30021660
http://dx.doi.org/10.1186/s13148-018-0530-z

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