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infantile neuronal ceroid lipofuscinosis : ウィキペディア英語版 | infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 sufferers in total today – but relatively common in Finland due to the local founder effect. ==Causes== It has been associated with palmitoyl-protein thioesterase.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「infantile neuronal ceroid lipofuscinosis」の詳細全文を読む
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