The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation

Author:

Matsui Akinobu,Akasaka Eijiro,Rokunohe Daiki,Matsuzaki Yasushi,Sawamura Daisuke,Nakano Hajime

Funder

Grant-in-Aid for Scientific Research

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference5 articles.

1. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations;Méndez;Mol. Genet. Metab.,2012

2. Porphyria cutanea tarda with constrictive pericardiis in a family;Adachi;Heart J.,1997

3. Porphyrias in Japan: Compilation of all cases reported through 2010;Kondo;ALA-Porphyrin Sci.,2012

4. Porphyria cutanea tarda;Khoo;Singapore Med. J.,2000

5. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency;Egger;Dig. Dis. Sci.,2002

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