Genetic basis of cystinosis in Turkish patients: A single-center experience

Pediatric Nephrology

Volumn 27, Issue 1, 2012, Pages 115-121

  Topaloglu, Rezan ^a   Vilboux, Thierry ^b   Coskun, Turgay ^a   Ozaltin, Fatih ^a   Tinloy, Brad ^b   Gunay Aygun, Meral ^b   Bakkaloglu, Aysin ^a   Besbas, Nesrin ^a   Van Den Heuvel, Lambert ^c   Kleta, Robert ^b   Gahl, William A ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c Department of Pediatrics   (Belgium)

Author keywords

CTNS gene; Cystinosis; Genetic basis; New mutations; Turkish patients

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CTNS GENE; CYSTINOSIS; EXON; FAILURE TO THRIVE; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; HUMAN; INTRON; KIDNEY FAILURE; MALE; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; ONSET AGE; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD; CYSTINOSIS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FAILURE TO THRIVE; FANCONI SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; POLYDIPSIA; POLYMERASE CHAIN REACTION; POLYURIA; PROTEINURIA; RENAL INSUFFICIENCY; SEQUENCE DELETION; TURKEY; YOUNG ADULT;

EID: 83655192039     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1942-6     Document Type: Article

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