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

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

Abstract 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 disorde...

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Bibliographic Details
Main Authors: Rhian L. Clissold, Beth Ashfield, Joe Burrage, Eilis Hannon, Coralie Bingham, Jonathan Mill, Andrew Hattersley, Emma L. Dempster
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Clinical Epigenetics
Subjects:
Epigenetics
DNA methylation
HNF1B
CNV
17q12 deletion
Renal disease
Online Access:http://link.springer.com/article/10.1186/s13148-018-0530-z

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http://link.springer.com/article/10.1186/s13148-018-0530-z

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