Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria

Urologia Internationalis

Volumn 69, Issue 3, 2002, Pages 207-211

  Lahme, Sven ^a   Bichler, Karl Horst ^a   Eggermann, Thomas ^b   Lang, Florian ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Cystinuria, human genetics; Genomic investigation; SLC3A1 gene

Indexed keywords

ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; DISEASE COURSE; GENE; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MOLECULAR GENETICS; PHENOTYPE; PHYSIOLOGY; PRIORITY JOURNAL; RISK FACTOR; SLC3A1 GENE;

BLOTTING, SOUTHERN; CARRIER PROTEINS; COHORT STUDIES; CYSTINURIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; GENETIC SCREENING; GENOME; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR BIOLOGY; MUTATION; POINT MUTATION; PROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 0036422749     PISSN: 00421138     EISSN: None     Source Type: Journal    
DOI: 10.1159/000063940     Document Type: Article

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