[Recent studies in our laboratory established genetic linkage to the type II keratin gene locus on chromosome 12q in one family with EH and identified a single amino acid mutation in keratin 1 that is responsible for the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE