. . . . . . . . . . . . "[We describe a family with the Herlitz type of junctional epidermolysis bullosa, in which the disease is associated with a homozygous splice-site mutation in the gamma 2-chain gene (LAMC2) of laminin-5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:37:23+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .