Titlebook: Diseases of DNA Repair; Shamim I. Ahmad Book 2010 The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Sci

Herd-Immunity

Amyotrophic Lateral Sclerosis,muscle paralysis that is fatal. There is no available cure and current therapies only provide minimal benefit at best. The disease is predominantly sporadic and until very recently only the Cu,Zn superoxide dismutase (Cu,ZnSOD), which is involved in a small number of sporadic cases and a larger comp

骨

焦慮

CRUDE

偏見(jiàn)

摻和

支形吊燈

Tuberous Sclerosis Complex and DNA Repair,ng renal angiomyolipomas, cardiac rhabdomyomas and subependymal giant cell astrocytomas. TSC causes disabling neurologic disorders, including epilepsy, mental retardation and autism. Brain lesions, including subependymal and subcortical hamartomas, have also been reported in TSC patients. TSC is ass

我悲傷

Hereditary Photodermatoses,caused by a wide variety of reasons, including defects in repair of light-induced DNA lesions, the interaction of certain chemicals or medications with sunlight to produce toxic mediators and photo-induced immune reactions. In this chapter we will describe photodermatoses that are associated with he

duplicate

Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome, which any or every organ in the body may be affected..–. Neuroectodermal derived tissues are particularly likely to be involved. This term was introduced by Price et al in 1980 to designate patients with sulfur-deficient brittle hair, which they recognized as a marker for this complex disease and d

顯微鏡

Cornelia de Lange Syndrome,facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, ., or the cohesin structural components . and ., have been identified in approximately 65% of individuals with CdLS.