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

• Asıl Yazarlar: David F. Bishop (Yazar), Vassili Tchaikovskii (Yazar), Irina Nazarenko (Yazar), Robert J. Desnick (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2013-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract 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 pr...