Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism

Human Genetics

Volumn 98, Issue 4, 1996, Pages 447-451

  Bisceglia, Luigi ^a   Calonge, Maria Julia ^b,c   Dello Strologo, Luca ^d   Rizzoni, Gianfranco ^d   De Sanctis, Luisa ^e   Gallucci, Michele ^f   Beccia, Ercole ^a   Testar, Xavier ^c   Zorzano, Antonio ^c   Estivill, Xavier ^b   Zelante, Leopolde ^a   Palacin, Manuel ^c   Gasparini, Paolo ^a   Nunes, Virginia ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Institut de Recerca Oncologica   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

^f Cristo Re Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; CYSTINURIA; DNA DETERMINATION; DNA POLYMORPHISM; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACIDS, DIAMINO; BASE SEQUENCE; CARRIER PROTEINS; CYSTINURIA; DNA PRIMERS; GENE FREQUENCY; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 10144242646     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050237     Document Type: Article

References (13)

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