Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

Pediatric Nephrology

Volumn 24, Issue 9, 2009, Pages 1773-1774

  Nozu, Kandai ^a   Krol, Rafal Przybyslaw ^a   Nakanishi, Koichi ^b   Yoshikawa, Norishige ^b   Nozu, Yoshimi ^a   Ohtsuka, Yasufumi ^c   Iijima, Kazumoto ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c SAGA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN COL4A5; PROTEIN COL4A6; UNCLASSIFIED DRUG;

ALPORT SYNDROME; CAPILLARY ELECTROPHORESIS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC VALUE; DIFFUSE LEIOMYOMA; DISEASE ASSOCIATION; EXON; GENE DELETION; GENE MUTATION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; INTRON; LEIOMYOMA; LETTER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; X CHROMOSOME; X LINKED ALPORT SYNDROME;

COLLAGEN TYPE IV; FEMALE; GENE DELETION; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; NEPHRITIS, HEREDITARY; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 68449099942     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1122-0     Document Type: Letter

References (7)

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