. . . . . . . . . . . . "[In the present study, the inheritance of four novel (364C>T, 393delC, 532G>A, and 1088-89insGG) and two previously reported (343C>T and 1001C>T) FECH mutations, and the splice site modulator IVS3-48C was investigated in nine Swedish families with EPP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-02-21"^^ . "2015-08-25T14:37:42+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .