Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome

Nephrology Dialysis Transplantation

Volumn 21, Issue 6, 2006, Pages 1582-1587

  Shimizu, Yoshio ^a   Nagata, Michio ^a   Usui, Joichi ^a   Hirayama, Kouichi ^a   Yoh, Keigyo ^a   Yamagata, Kunihiro ^a   Kobayashi, Masaki ^b   Koyama, Akio ^a,c  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b Tokyo Medical University Ibaraki Medical Center   (Japan)

^c IBARAKI PREFECTURAL UNIVERSITY OF HEALTH SCIENCES   (Japan)

Author keywords

Alport syndrome; Alternatively spliced isoform; COL4A5; X chromosome inactivation

Indexed keywords

COLLAGEN TYPE 4; COMPLEMENTARY DNA; ISOPROTEIN;

ADULT; ALPORT SYNDROME; ALTERNATIVE RNA SPLICING; ARTICLE; BIOASSAY; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; DISEASE TRANSMISSION; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEARING IMPAIRMENT; HEMODIALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; KIDNEY BIOPSY; MALE; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; SEX DIFFERENCE; TISSUE DISTRIBUTION; TISSUE SPECIFICITY; VISUAL DISORDER; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

ADULT; ALTERNATIVE SPLICING; COLLAGEN TYPE IV; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC VARIATION; HETEROZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; NEPHRITIS, HEREDITARY; PHENOTYPE; POINT MUTATION; PROTEIN ISOFORMS; SEX FACTORS; TISSUE DISTRIBUTION; VARIATION (GENETICS); X CHROMOSOME INACTIVATION;

EID: 33745972931     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl051     Document Type: Article

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