Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.
Gitomer
W L
WL
Center for Mineral Metabolism and Clinical Research and Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235-8885, USA. William.Gitomer@email.swmed.edu
Reed
B Y
BY
Pak
C Y
CY
D019943:Amino Acid Substitution / Q000235:genetics; D026923:Amino Acid Transport Systems, Basic; D001216:Asparagine / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D003545:Cysteine / Q000235:genetics / Q000652:urine; D003555:Cystinuria / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D013912:Threonine / Q000235:genetics; D014633:Valine / Q000235:genetics
D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D013912:Threonine; D001216:Asparagine; D014633:Valine; D003545:Cysteine