Functional analysis of a new splice site mutation, c.605-3C > A, in the cystinuria gene SLC7A9 leading to exon skipping

Molecular Genetics and Metabolism

Volumn 84, Issue 2, 2005, Pages 172-175

  Schmidt, Christa ^a   Lahme, Sven ^b   Zerres, Klaus ^a   Eggermann, Thomas ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Cystinuria; Exon skipping; SLC7A9; Splice site mutation

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; AMINO ACID TRANSPORT; ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CYSTINURIA; EXON; FUNCTIONAL ASSESSMENT; GENE CONSTRUCT; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; INTESTINE; INTRON; KIDNEY TUBULE; MEMBRANE; NEPHROLITHIASIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; WILD TYPE;

AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; COS CELLS; CYSTINURIA; EXONS; HUMANS; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING;

STAPHYLOCOCCUS PHAGE 3A;

EID: 12844249480     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.08.018     Document Type: Article

References (6)

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