Associated Papers
X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.
Wang T et al.
Annals of Translational Medicine, 2020
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Brancaleoni V et al.
Clinical Genetics, 2016
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 and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S et al.
Human Molecular Genetics, 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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