Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 351-355

  Di Perna, Michele ^a   Louizou, Eirini ^b   Fischetti, Lucia ^a   Dedoussis, George V Z ^b   Stanziale, Pietro ^a   Michelakakis, Helen ^c   Zelante, Leopoldo ^a   Pras, Elon ^d,e   Bisceglia, Luigi ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b HAROKOPIO UNIVERSITY   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CYSTINURIA; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GREECE; HUMAN; INTRON; ITALY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SLC3A1 GENE; SLC7A9 GENE;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; COHORT STUDIES; CYSTINURIA; DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION;

EID: 50649084766     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0113     Document Type: Article

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