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Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Crossref DOI link: https://doi.org/10.1038/s41436-019-0584-0

Published Print: 2020-01

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Chiara, Matteo https://orcid.org/0000-0003-3983-4961
Primon, Ilaria

Tarantini, Letizia

Agnelli, Luca

Brancaleoni, Valentina https://orcid.org/0000-0003-1521-3319
Granata, Francesca https://orcid.org/0000-0002-1115-3374
Bollati, Valentina

Di Pierro, Elena https://orcid.org/0000-0002-1413-1349
Funding

Funding for this research was provided by:

Italian Ministry of Health (GR-2011-02347129)

Italian Ministry of Health (RC2019)
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Text and Data Mining valid from 2020-01-01

Version of Record valid from 2022-01-19
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This article is maintained by: Elsevier

Article Title: Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-019-0584-0

Content Type: article

Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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