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
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...
Saved in:
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) |
---|---|
Format: | Book |
Published: |
BMC,
2013-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria
by: Katelyn E. Madigan, et al.
Published: (2023) -
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
by: Jasmin Barman-Aksözen, et al.
Published: (2017) -
Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria
by: David F. Bishop, et al.
Published: (2013) -
Erythropoietic Protoporphyria in a Japanese Population
by: Megumi Mizawa, et al.
Published: (2019) -
Acquired erythropoietic protoporphyria secondary to myelodysplastic syndrome: from mythology to oncologyAcquired Erythropoietic Protoporphyria Secondary to Myelodysplastic Syndrome: From Mythology to Oncology
by: Mirjana Urosevic-Maiwald, et al.
Published: (2024)