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-Reference-Cited by-同舟云学术

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

Published:2013-01 Issue:1 Volume:19 Page:26-29
ISSN:1076-1551
Container-title:Molecular Medicine
language:en
Short-container-title:Mol Med

Author:

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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.2119/molmed.2012.00340.pdf

Reference43 articles.

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2. Lecha M, Puy H, Deybach JC. (2009) Erythropoietic protoporphyria. Orphanet. J. Rare. Dis. 4:19.

3. Todd DJ. (1994) Erythropoietic protoporphyria. Br. J. Dermatol. 131:751–766.

4. Anderson KE, et al. (2005) Recommendations for the diagnosis and treatment of the acute porphyrias. Ann. Intern. Med. 142:439–50.

5. Gross U, Frank M, Doss MO. (1998) Hepatic complications of erythropoietic protoporphyria. Photodermatol. Photoimmunol. Photomed. 14:52–7.

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