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

Splicing mutations account for approximately 10% of lesions causing genetic diseases, but few branchpoint sequence (BPS) lesions have been reported. In 3 families with autosomal recessive congenital erythropoietic porphyria (CEP) resulting from uroporphyrinogen III synthase (URO-synthase) deficiency...

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Detalhes bibliográficos
Main Authors: Bishop, David F., Schneider-Yin, Xiaoye, Clavero, Sonia, Yoo, Han-Wook, Minder, Elisabeth I., Desnick, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2010
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2817632/
https://ncbi.nlm.nih.gov/pubmed/19965637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2009-04-218016
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