Partial protoporphyrinogen oxidase (<it>PPOX</it>) gene deletions, due to different <it>Alu</it>-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Partial protoporphyrinogen oxidase (<it>PPOX</it>) gene deletions, due to different <it>Alu</it>-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

<p>Abstract</p> <p>Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the <it>PPOX</it> gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals ca...

Full description

Bibliographic Details
Main Authors: Barbaro Michela, Kotajärvi Maire, Harper Pauline, Floderus Ylva
Format: Article
Language:English
Published: BMC 2013-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
<it>Alu</it>-mediated deletions
Protoporphyrinogen oxidase
<it>PPOX</it>
VP
Variegate porphyria
MLPA
Online Access:http://www.ojrd.com/content/8/1/13

Internet

http://www.ojrd.com/content/8/1/13

Similar Items