Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Gómez-Abecia S et al.
Gene, 2013
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Cantatore-Francis JL et al.
Archives of Dermatology, 2010
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Christiansen L et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2000
Select a paper to view details