Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: Mutation detection rates and association between variants in SLC7A9 and the disease

Clinical Nephrology

Volumn 57, Issue 5, 2002, Pages 342-348

  Schmidt, C ^a   Albers, A ^a   Tomiuk, J ^a   Eggermann, K ^a   Wagner, C ^a   Capasso, Giovambattista ^a   Lahme, S ^a   Hesse, A ^a   Lang, F ^a   Zerres, K ^a   Eggermann, T ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Cystinuria; Molecular genetic diagnosis; Mutations; Polymorphisms; SLC3A1; SLC7A9

Indexed keywords

AMINO ACID; CARRIER PROTEIN; CYSTINE; GENE PRODUCT; GLYCOPROTEIN; AMINO ACID TRANSPORTER; MEMBRANE PROTEIN; SLC7A9 PROTEIN, HUMAN;

ALLELE; AMINO ACID TRANSPORT; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; EXON; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INHERITANCE; INTRON; KIDNEY TUBULE ABSORPTION; MUTATION RATE; PHENOTYPE; POINT MUTATION; CLASSIFICATION; GENE FREQUENCY; GENETICS; HETEROZYGOTE;

AMINO ACID TRANSPORT SYSTEMS, BASIC; CARRIER PROTEINS; CYSTINURIA; EXONS; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMANS; INTRONS; MEMBRANE GLYCOPROTEINS; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 0035989757     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP57342     Document Type: Article

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