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Article

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

The Journal of clinical investigation - 1 Nov 1990

Garey J R, Harrison L M, Franklin K F, Metcalf K M, Radisky E S, Kushner J P

Abstract excerpt

Uroporphyrinogen decarboxylase (URO-D) is a cytosolic heme-biosynthetic enzyme that converts uroporphyrinogen to coproporphyrinogen. Defects at the uroporphyrinogen decarboxylase locus cause the human genetic disease familial porphyria cutanea tarda. A splice site mutation has been found in a pedigree with familial porphyria cutanea tarda that causes exon 6 to be deleted from the mRNA. The intron/exon junctions...

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Identifiers

PMID: 2243121
DOI: 10.1172/JCI114856
PMCID: PMC296884

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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.PMID 2243121Read ↗

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