Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with...

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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Melissa D Lage, Adrianne M C Pittman, Alessandro Roncador, Barbara Cellini, Chandra L Tucker
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Public Library of Science (PLoS) 2014-01-01
Σειρά:	PLoS ONE
Διαθέσιμο Online:	http://europepmc.org/articles/PMC3981788?pdf=render
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