Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027960 (
mole
)
21,279
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
It has recently been demonstrated that genetic defects in keratin genes cause a number of different skin disorders, including epidermolysis bullosa simplex (EBS), epidermolytic hyperkeratosis (EH), the EH form of epidermal
nevi
, epidermolytic and non-epidermolytic forms of palmoplantar keratoderma (EPPK and
PPK
) and pachyonychia congenita (PC). In this review, I describe the research that led to this discovery.
...
PMID:JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins. 902