Recently, double von Willebrand factor domain A (DVWA) gene, a previously unknown gene, was revealed to contain several single nucleotide polymorphisms (SNP
Epidermolytic palmoplantar keratoderma (EPPK, OMIM: 144200), an autosomal dominant genodermatosis first described by Vorner in 1901, is the most common form
Ossification of the posterior longitudinal ligament (OPLL;OMIM #602475) is characterized by pathological ectopic ossification of the cervical and thoracic s
Foxp3 expression and Treg development are critical for maintaining dominant tolerance and preventing autoimmune diseases.Human Mst1 deficiency causes a novel pr
Abnormally hyperphosphorylated microtubule-associated protein tau, the major protein of the intracellular neurofibrillary tangles in Alzheimers disease (AD)