Associated Papers
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
33570620 (PubMed )
Supplement: advancesadv2020003150-suppl1.pdf
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.
Balwani M et al.
Molecular Medicine (cambridge, Mass.), 2013
A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
Ma J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Long ZB et al.
Journal of Zhejiang University. Science. B, 0
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