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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2008
Предметы:
Research Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы