Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria

A heterozygous mutation (c.643C>A; p.Q215X) in the monocarboxylate transporter 12-encoding gene MCT12 (also known as SLC16A12) that mediates creatine transport was recently identified as the cause of a syndrome with juvenile cataracts, microcornea, and glucosuria in a single family. Whereas the M...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Am Soc Nephrol
Main Authors: Dhayat, Nasser, Simonin, Alexandre, Anderegg, Manuel, Pathare, Ganesh, Lüscher, Benjamin P, Deisl, Christine, Albano, Giuseppe, Mordasini, David, Hediger, Matthias A., Surbek, Daniel V., Vogt, Bruno, Sass, Jörn Oliver, Kloeckener-Gruissem, Barbara, Fuster, Daniel G.
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society of Nephrology 2016
נושאים:
Basic Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4849831/
https://ncbi.nlm.nih.gov/pubmed/26376857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015040411
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