Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
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先天性红细胞生成性卟啉症。
DOI：
10.1001/archderm.128.9.1243
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发表时间：
1992
影响因子：
--
通讯作者：
Desnick,RJ
中科院分区：
文献类型：
--
作者：
Warner,CA;Poh-Fitzpatrick,MB;Zaider,EF;Tsai,SF;Desnick,RJ
