Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients

Pediatric Nephrology

Volumn 23, Issue 11, 2008, Pages 2085-2090

  Nozu, Kandai ^a   Przybyslaw Krol, Rafal ^a   Ohtsuka, Yasufumi ^b   Nakanishi, Koichi ^c   Yoshikawa, Norishige ^c   Nozu, Yoshimi ^a   Kaito, Hiroshi ^a   Kanda, Kyoko ^a   Hashimura, Yuya ^a   Hamasaki, Yuhei ^b   Iijima, Kazumoto ^d   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SAGA UNIVERSITY   (Japan)

^c WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Alport syndrome; COL4A5; Female; Large heterozygous deletion; Semi quantitative PCR

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA5; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; ALPORT SYNDROME; ANALYTIC METHOD; ARTICLE; CASE REPORT; DNA EXTRACTION; DNA SEQUENCE; ELECTRON MICROSCOPY; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HETEROZYGOSITY; HUMAN; IMMUNOGLOBULIN A NEPHROPATHY; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; LEUKOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; RNA EXTRACTION; RNA SEQUENCE;

ADULT; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; FEMALE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMANS; KIDNEY; NEPHRITIS, HEREDITARY; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 53749085959     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0878-y     Document Type: Article

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