[Although mutations in junctional EB have not been reported, findings of structural alterations in hemidesmosomes and immunohistochemical studies of kalinin (BM600 and epiligrin), and in junctional EB with pyloric atresia alterations in the integrin alpha 6 beta 4, indicate molecules involved in basal keratinocyte adhesion to the basement membrane that are candidate genes for junctional EB.]. 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