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High prevalence of HFE mutations in Italian population of northern origin

โœ Scribed by Alessandra Salvioni; Raffaella Mariani; Viviana Mauri; Alessia Riva; C. Oberkainins; A. Moritz; Valentina Baldini; Cristina Arosio; Paolo Cerutti; Alberto Piperno

Book ID
118565496
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
114 KB
Volume
36
Category
Article
ISSN
0168-8278

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High prevalence of the His63Asp HFE muta
High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda
โœ Maurizio Sampietro; Alberto Piperno; Loredana Lupica; Cristina Arosio; Anna Verg ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 67 KB ๐Ÿ‘ 1 views

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A