Molecular genetics of heritable blistering disorders.
Over the past decade, there has been tremendous progress in understanding the genetic basis of different forms of genodermatoses. Specifically, with the advent of technologies in molecular biology in general, an increasingly large number of gene defects have been identified in different genodermatoses, and mutations are now known to occur in more than 100 distinct genes in such a manner that the genetic lesions explain the spectrum of phenotypic manifestations encountered in these diseases.
Uitto
J
J
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, 233 S 10th St, Suite 450 BLSB, Philadelphia, PA 19107. Jouni.Uitto@mail.tju.edu
Pulkkinen
L
L
D001485:Basement Membrane / Q000002:abnormalities; D004820:Epidermolysis Bullosa / Q000145:classification / Q000235:genetics* / Q000473:pathology; D005817:Genetic Counseling; D015316:Genetic Therapy; D006801:Humans; D010641:Phenotype; D011296:Prenatal Diagnosis; D011379:Prognosis