Genetic testing can resolve diagnostic confusion in Alport syndrome

Clinical Kidney Journal

Volumn 7, Issue 2, 2014, Pages 197-200

  Adam, Jennifer ^a   Connor, Thomas M F ^b   Wood, Katrina ^a   Lewis, David ^c   Naik, Ramesh ^d   Gale, Daniel P ^e   Sayer, John A ^a,f  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^e ROYAL FREE HOSPITAL   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Alport syndrome; COL4A3; COL4A5; haematuria; molecular genetics

Indexed keywords

CREATININE;

ADULT; ALPORT SYNDROME; ARTICLE; BASEMENT MEMBRANE; BLOOD PRESSURE; CASE REPORT; CHRONIC KIDNEY DISEASE; CONFUSION; CREATININE BLOOD LEVEL; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNA DETERMINATION; ELECTRON MICROSCOPY; END STAGE RENAL DISEASE; FAMILY HISTORY; FEMALE; FOCAL GLOMERULOSCLEROSIS; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GLOMERULOSCLEROSIS; GLOMERULUS BASEMENT MEMBRANE; GLOMERULUS FILTRATION RATE; HEMATURIA; HIGH FREQUENCY HEARING LOSS; HUMAN; HUMAN TISSUE; HYPERTENSION; IMMUNOFLUORESCENCE; IMMUNOPEROXIDASE STAINING; KIDNEY BIOPSY; KIDNEY FUNCTION; KIDNEY GRAFT; KIDNEY HYPERTROPHY; MALE; MEDICAL HISTORY; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MICROSCOPY; MIDDLE AGED; NEPHROTIC RANGE PROTEINURIA; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PRESBYACUSIS; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA;

EID: 84897392954     PISSN: 20488505     EISSN: 20488513     Source Type: Journal    
DOI: 10.1093/ckj/sft144     Document Type: Article

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