Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

Molecular Genetics and Metabolism - Tập 128 - Trang 358-362 - 2019
Yedidyah Weiss1, Manisha Balwani1, Brenden Chen1, Makiko Yasuda2, Irina Nazarenko1, Robert J. Desnick1
1Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA
2Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

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Molecular Genetics and Metabolism

Tập 128

358-362

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