نتایج جستجو برای: inherited
تعداد نتایج: 31514 فیلتر نتایج به سال:
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families ha...
The universally applied Codd's relational model has two constructs: a stored relation, with stored attributes only and a view, only with the inherited ones. In 1992, we have proposed third construct, mixing both types of attributes. Examples showed the idea attractive. No one followed however. We now revisit our proposal. We show that a relational database scheme using also our construct may be...
Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies, also known as Charcot-Marie-Tooth disease (CMT). More than 40 different genes have been shown to cause inherited neuropathies; chromosomal localizations of many other distinct inherited neuropathies have been mapped, and new genetic causes for inherited neuropathies co...
Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...
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