Article
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Blood - 1 Dec 2001
Phillips J D, Parker T L, Schubert H L, Whitby F G, Hill C P, Kushner J P
Abstract excerpt
Functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT). All but one mutation altered a restriction site in the URO-D gene, permitting identification of affected relatives using a combination of polymerase chain reaction and...
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