Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function mutations in the X-linked erythroid-specific 5...

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Autors principals: Balwani, Manisha, Doheny, Dana, Bishop, David F, Nazarenko, Irina, Yasuda, Makiko, Dailey, Harry A, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Liu, Lawrence, Desnick, Robert J
Format: Artigo
Idioma:Inglês
Publicat: ScholarOne 2013
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646094/
https://ncbi.nlm.nih.gov/pubmed/23364466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2012.00340
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