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References

These sources were used to develop the Genetics Home Reference gene summary on the SLC7A7 gene.

Chillarón J, Roca R, Valencia A, Zorzano A, Palacín M. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol. 2001 Dec;281(6):F995-1018. Review. PubMed citation
Entrez Gene
OMIM: SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7
Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A. Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. Review. PubMed citation
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda). 2005 Apr;20:112-24. Review. PubMed citation
Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008 Jan;29(1):14-21. Review. PubMed citation
Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat. 2005 Apr;25(4):410. PubMed citation

Reviewed: March 2008

Published: May 20, 2013