(Q36821528)
English
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
scientific article published on 30 April 2013
Statements
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 (English)
Robert J Desnick
Manisha Balwani
Dana Doheny
Irina Nazarenko
Makiko Yasuda
Harry A Dailey
D Montgomery Bissell
Joseph Bloomer
Herbert L Bonkovsky
John D Phillips
Lawrence Liu
Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network
1 January 2013
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