GÑŒnther disease
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GÑŒnther disease — GÑŒn·ther disease (gēnґter) [Hans GÑŒnther, German physician, 1884–1956] see congenital erythropoietic porphyria, under porphyria … Medical dictionary
congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… … Medical dictionary
