A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter

Kidney International

Volumn 69, Issue 7, 2006, Pages 1198-1206

  Shigeta, Y ^a,b   Kanai, Y ^a   Chairoungdua, A ^a   Ahmed, N ^a,b   Sakamoto, S ^a,b   Matsuo, H ^a,c   Kim, D K ^a,d   Fujimura, M ^a,b   Anzai, N ^a   Mizoguchi, K ^b   Ueda, T ^b   Akakura, K ^b   Ichikawa, T ^b   Ito, H ^b   Endou, H ^a  

^a KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^d Chosun University   (South Korea)

Author keywords

Cystinuria; Epithelial transport; Membrane transporter; Proximal tubule

Indexed keywords

AMINO ACID; ARGININE; CARBON 14; COMPLEMENTARY DNA; CYSTINE; GENOMIC DNA; HYBRID PROTEIN; LYSINE; ORNITHINE;

ANIMAL CELL; ARTICLE; ASIAN; CELL STRAIN COS7; CLINICAL ARTICLE; CONFOCAL LASER MICROSCOPY; CYSTINURIA; ETHNIC GROUP; GENE; GENE MUTATION; HUMAN; ISOTOPE LABELING; JAPAN; KIDNEY CELL; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; KOREA; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLC7A9 GENE; URINARY EXCRETION; WESTERN BLOTTING;

AMINO ACID SUBSTITUTION; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; CYSTINURIA; DNA PRIMERS; EXONS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INTRONS; JAPAN; MICROSCOPY, CONFOCAL; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 33645502153     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5000241     Document Type: Article

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