Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria has been attribute...

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Detalhes bibliográficos
Main Authors: Bröer, Stefan, Bailey, Charles G., Kowalczuk, Sonja, Ng, Cynthia, Vanslambrouck, Jessica M., Rodgers, Helen, Auray-Blais, Christiane, Cavanaugh, Juleen A., Bröer, Angelika, Rasko, John E.J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579706/
https://ncbi.nlm.nih.gov/pubmed/19033659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI36625
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