Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

Nephrology Dialysis Transplantation

Volumn 23, Issue 8, 2008, Pages 2525-2530

  Krol, Rafal Przybyslaw ^a   Nozu, Kandai ^a   Nakanishi, Koichi ^b   Iijima, Kazumoto ^c   Takeshima, Yasuhiro ^a   Fu, Xue Jun ^a   Nozu, Yoshimi ^a   Kaito, Hiroshi ^a   Kanda, Kyoko ^a   Matsuo, Masafumi ^a   Yoshikawa, Norishige ^b  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

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

Author keywords

Alport syndrome; COL4A5; Somatic mosaicism

Indexed keywords

METALLOPROTEINASE; PROCOLLAGEN TYPE 4 ALPHA 5;

ALPORT SYNDROME; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLOMERULUS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NEPHRITIS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD;

BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GLOMERULAR BASEMENT MEMBRANE; HEMATURIA; HUMANS; KIDNEY; MALE; MOSAICISM; MUTATION; NEPHRITIS, HEREDITARY; PHENOTYPE; PROTEINURIA; RNA, MESSENGER;

EID: 48749093107     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfn005     Document Type: Article

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