Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to...

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Veröffentlicht in:	Human mutation 2009-06, Vol.30 (6), p.910-917
Hauptverfasser:	Williams, Emma L, Acquaviva, Cecile, Amoroso, Antonio, Chevalier, Francoise, Coulter-Mackie, Marion, Monico, Carla G, Giachino, Daniela, Owen, Tricia, Robbiano, Angela, Salido, Eduardo, Waterham, Hans, Rumsby, Gill
Format:	Artikel
Sprache:	eng
Schlagworte:	AGXT Alleles Animals DNA Mutational Analysis Humans Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - enzymology Hyperoxaluria, Primary - genetics mutation PH1 Polymorphism, Genetic primary hyperoxaluria type 1 Transaminases - chemistry Transaminases - genetics Uniparental Disomy - genetics
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