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
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
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
Select a paper to view details