نتایج جستجو برای: disease symptoms

تعداد نتایج: 1671445  

Journal: :genetics in the 3rd millennium 0
mahmoud reza ashrfi tavasoli alireza

np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

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Journal: :JAMA: The Journal of the American Medical Association 1907

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