Associated Papers
X-linked dominant erythropoietic protoporphyria with early-onset manifestations caused by a hemizygous ALAS2 variant.
Srinivas SM et al.
Clinical and Experimental Dermatology, 2024
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P et al.
European Journal of Dermatology : Ejd, 2020
X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.
Wang T et al.
Annals of Translational Medicine, 2020
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Brancaleoni V et al.
Clinical Genetics, 2016
Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis.
Butler DF et al.
Pediatric Transplantation, 2015
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
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Bishop DF et al.
Molecular Medicine (cambridge, Mass.), 2013
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