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

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Bibliographic Details
Title: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Authors: Barbaro M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Kotajärvi M, Harper P, Floderus Y
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jan 16; Vol. 8, pp. 13. Date of Electronic Publication: 2013 Jan 16.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/1750-1172-8-13