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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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Detaylı Bibliyografya
Asıl Yazarlar: Garey, J R, Harrison, L M, Franklin, K F, Metcalf, K M, Radisky, E S, Kushner, J P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC296884/
https://ncbi.nlm.nih.gov/pubmed/2243121
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