Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform moles, spontaneous abortions and stillbirths, whereas live births are very rare. We have studied a patient with multiple anomalies born to a mother with a heterozygous NLRP7 mutation. By array-based CpG m...

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Detalles Bibliográficos
Autores principales: Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793946/
https://www.ncbi.nlm.nih.gov/pubmed/24130816
http://dx.doi.org/10.1371/journal.pone.0076953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793946/
https://www.ncbi.nlm.nih.gov/pubmed/24130816
http://dx.doi.org/10.1371/journal.pone.0076953

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