Analysis of CTNS gene transcripts in nephropathic cystinosis

Pediatric Nephrology

Volumn 25, Issue 7, 2010, Pages 1263-1267

  Taranta, Anna ^a   Wilmer, Martijn J ^b   Van Den Heuvel, Lambert P ^b,c   Bencivenga, Paola ^a   Bellomo, Francesco ^a   Levtchenko, Elena N ^c   Emma, Francesco ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

CTNS gene; DNA duplication; Nephropathic cystinosis; Splicing defect

Indexed keywords

RNA;

ARTICLE; AUTOSOMAL DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CODING; CYSTINOSIS; DNA DETERMINATION; DNA SEQUENCE; EXON; FAMILY; FEMALE; FIBROBLAST; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENOMICS; HUMAN; HUMAN CELL; INTRON; MALE; MEMBRANE TRANSPORT; MONOGENIC DISORDER; PERIPHERAL BLOOD MONONUCLEAR CELL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SIBLING;

ALTERNATIVE SPLICING; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD, PRESCHOOL; CYSTINOSIS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENE DUPLICATION; HUMANS; INFANT; KIDNEY; LEUKOCYTES, MONONUCLEAR; MALE; POINT MUTATION;

EID: 77954480777     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1502-5     Document Type: Article

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