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Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The l...
Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
genotype-phenotype mutation ATP7B Wilson’s disease
2009/4/1
Wilson’s disease (WD), an autosomal recessive disorder of copper transport, usually presents with symptoms of the liver or central nervous system. The known disease-caused mutations identified in the ...