syndrome[医]范可尼综合征,胱氨酸(贮积)病
Objective To recognize the etiologies, clinical, and biochemical manifestations of Fanconi syndnome ( FS ).
目的 进一步认识范可尼 综合征 (FS ) 的病因 、 临床特点与生化异常.
Over 11 known Fanconi anemia gene products are involved in DNA damage response pathway.
目前已发现11种FA蛋白参与形成了一种DNA损伤应答途径.