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Targeted resequencing of FECH locus reveals that a novel de..:
Chiara, Matteo
;
Primon, Ilaria
;
Tarantini, Letizia
...
Genetics in Medicine. 22 (2020) 1 - p. 35-43 , 2020
Link:
https://doi.org/10.1038/s41436-019-0584-0
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-019-0584-0&Exemplar=1&LAN=DE A1 Chiara, Matteo A1 Primon, Ilaria A1 Tarantini, Letizia A1 Agnelli, Luca A1 Brancaleoni, Valentina A1 Granata, Francesca A1 Bollati, Valentina A1 Di Pierro, Elena PB Elsevier BV YR 2020 SN 1098-3600 JF Genetics in Medicine VO 22 IS 1 SP 35 OP 43 LK http://dx.doi.org/https://doi.org/10.1038/s41436-019-0584-0 DO https://doi.org/10.1038/s41436-019-0584-0 SF ELIB - SuUB Bremen
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