Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-012-9568-9
Reference9 articles.
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2. Duran M, Dorland L, Wadman SK, Berger R (1994) Group tests for selective screening of inborn errors of metabolism. Eur J Pediatr 153:S27–S32
3. Hiles RA, Henderson LM (1972) The partial purification and properties of hydroxylysine kinase from rat liver. J Biol Chem 247:646–651
4. Mantri M, Loik ND, Hamed RB, Claridge TD, McCullagh JS, Schofield CJ (2011) The 2-oxoglutarate-dependent oxygenase JMJD6 catalyses oxidation of lysine residues to give 5s-hydroxylysine residues. ChemBioChem 12:531–534
5. Okazaki S, Suzuki A, Mizushima T, Kawano T, Komeda H, Asano Y, Yamane T (2009) The novel structure of a pyridoxal 5′-phosphate-dependent fold-type I racemase, alpha-amino-epsilon-caprolactam racemase from Achromobacter obae. Biochemistry 48:941–950
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