Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

Molecular Genetics and Metabolism

Volumn 99, Issue 1, 2010, Pages 42-52

  Bisceglia, Luigi ^a   Fischetti, Lucia ^a   Bonis, Patrizia De ^a   Palumbo, Orazio ^a,b   Augello, Bartolomeo ^a   Stanziale, Pietro ^a   Carella, Massimo ^a   Zelante, Leopoldo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF BARI   (Italy)

Author keywords

Cystinuria; Large rearrangements; MLPA analysis; SLC3A1; SLC7A9

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; SLC3A1 PROTEIN; SLC7A9 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; EXON; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; COHORT STUDIES; CYSTINURIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC TESTING; HUMANS; ITALY; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 71949124402     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.09.001     Document Type: Article

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