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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2008
Aiheet:
Research Article
Linkit: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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