[Increasing numbers of point mutations in the human keratin genes have been found in both sporadic and familial cases of EBS in keratins 5/14 and EH in keratins K1/K10 genes, respectively, particularly in highly conserved subdomains of the keratin proteins.]. 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