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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.
Chiara, Matteo; Primon, Ilaria; Tarantini, Letizia; Agnelli, Luca; Brancaleoni, Valentina; Granata, Francesca; Bollati, Valentina; Di Pierro, Elena.
Affiliation
  • Chiara M; Dipartimento di Bioscienze, Università degli Studi di Milano, Milan, Italy.
  • Primon I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOC Medicina Generale, Milan, Italy.
  • Tarantini L; EPIGET-Epidemiology, Epigenetics and Toxicology Lab Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
  • Agnelli L; Department of Oncology and Hemato-oncology, University of Milan; and Hematology 1, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Brancaleoni V; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOC Medicina Generale, Milan, Italy.
  • Granata F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOC Medicina Generale, Milan, Italy.
  • Bollati V; EPIGET-Epidemiology, Epigenetics and Toxicology Lab Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
  • Di Pierro E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOC Medicina Generale, Milan, Italy. elena.dipierro@policlinico.mi.it.
Genet Med ; 22(1): 35-43, 2020 01.
Article in En | MEDLINE | ID: mdl-31273344
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Substitution / Gene Expression Profiling / Protoporphyria, Erythropoietic / Ferrochelatase / High-Throughput Nucleotide Sequencing Type of study: Prognostic_studies / Qualitative_research Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Substitution / Gene Expression Profiling / Protoporphyria, Erythropoietic / Ferrochelatase / High-Throughput Nucleotide Sequencing Type of study: Prognostic_studies / Qualitative_research Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy