A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.
Rupar
C A
CA
Matsell
D
D
Surry
S
S
Siu
V
V
D026921:Amino Acid Transport Systems, Neutral; D001483:Base Sequence; D002835:Christianity; D003554:Cystinosis / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006023:Glycoproteins; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D020125:Mutation, Missense / Q000235:genetics*; D009864:Ontario / Q000453:epidemiology; D017384:Sequence Deletion / Q000235:genetics
D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins