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

• Main Authors: Manisha Balwani (Author), Dana Doheny (Author), David F. Bishop (Author), Irina Nazarenko (Author), Makiko Yasuda (Author), Harry A. Dailey (Author), Karl E. Anderson (Author), D. Montgomery Bissell (Author), Joseph Bloomer (Author), Herbert L. Bonkovsky (Author), John D. Phillips (Author), Lawrence Liu (Author), Robert J. Desnick (Author), The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network (Author)
• פורמט: ספר
• יצא לאור: BMC, 2013-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract 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-s...