الرئيسية » أرشيف الوسم : autosomal

أرشيف الوسم : autosomal

aceruloplasminemia

aceruloplasminemia or acaeruloplasminaemia a rare autosomal recessive disorder in which plasma ceruloplasmin is severely deficient, characterized by neurological abnormalities and systemic hemosiderosis. Any of at least six mutations in a locus at 3q21-q24 can cause the disease.

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