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Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

David F. Bishop, Xiaoye Schneider-Yin, Sonia Clavero, Han-Wook Yoo, Elisabeth I. Minder, Robert J. Desnick
Journal: Blood
Blood (2010) 115 (5): 1062–1069.
https://doi.org/10.1182/blood-2009-04-218016
Published: 2010
Includes: Supplemental data