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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...
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Gepubliceerd in: | J Am Soc Nephrol |
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Hoofdauteurs: | , , , , , , , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
American Society of Nephrology
2016
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Onderwerpen: | |
Online toegang: | 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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