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Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1670ΔAT (ΔAT) and c.1706_1709ΔAGTG (ΔAGTG), that prematurely...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Bishop, David F, Tchaikovskii, Vassili, Nazarenko, Irina, Desnick, Robert J
Format: Artigo
Sprache:Inglês
Veröffentlicht: ScholarOne 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3592931/
https://ncbi.nlm.nih.gov/pubmed/23348515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2013.00003
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