The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients

Pediatric Nephrology

Volumn 20, Issue 9, 2005, Pages 1260-1264

  Šlajpah, Maja ^a   Meglič, Anamarija ^b   Furlan, Polonca ^c   Glavač, Damjan ^a  

^a INSTITUTE OF PATHOLOGY   (Slovenia)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^c General Hospital Novo Mesto   (Slovenia)

Author keywords

Alport syndrome; COL4A5; Diagnostics; SSCP

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HEMATURIA; HUMAN; INFANT; KIDNEY BIOPSY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEPHRITIS; NON INVASIVE MEASUREMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY; SLOVENIA; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION; X CHROMOSOME LINKED DISORDER;

AGE FACTORS; CHILD, PRESCHOOL; COLLAGEN; FEMALE; GENETIC TECHNIQUES; HUMANS; INFANT; MALE; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE;

EID: 24044455680     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-1975-9     Document Type: Article

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