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

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 pedigr...

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出版年:	J Clin Invest
主要な著者:	Garey, J R, Harrison, L M, Franklin, K F, Metcalf, K M, Radisky, E S, Kushner, J P
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 1990
主題:	Research Article
オンライン･アクセス:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296884/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2243121/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114856
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