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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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| Publicado no: | Clin Epigenetics |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | 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 |
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