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Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria
Author(s) -
Kang TW,
Oh SW,
Kim MR,
Lee JS,
Kim SC
Publication year - 2009
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/j.1468-3083.2008.02905.x
Subject(s) - medicine , missense mutation , dermatology , phenotype , genetics , biology , gene