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

Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed areas of the s...

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Detalles Bibliográficos
Autores principales: Barbaro, Michela, Kotajärvi, Maire, Harper, Pauline, Floderus, Ylva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554555/
https://www.ncbi.nlm.nih.gov/pubmed/23324528
http://dx.doi.org/10.1186/1750-1172-8-13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554555/
https://www.ncbi.nlm.nih.gov/pubmed/23324528
http://dx.doi.org/10.1186/1750-1172-8-13

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