A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

Kidney International

Volumn 65, Issue 6, 2004, Pages 2030-2040

  Arrondel, Christelle ^b   Deschênes, Georges ^b   Le Meur, Yannick ^b   Viau, Amandine ^b   Cordonnier, Christophe ^b   Fournier, Alain ^b   Amadeo, Stephane ^b   Gubler, Marie Claire ^b   Antignac, Corinne ^b   Heidet, Laurence ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

Alport syndrome; Founder mutation; French Polynesia; Genetic counseling; Molecular diagnosis; Tandem duplication

Indexed keywords

COLLAGEN TYPE 4; DNA FRAGMENT;

ALPORT SYNDROME; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; EXON; FEMALE; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENEALOGY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLOMERULUS BASEMENT MEMBRANE; HAPLOTYPE; HETEROZYGOTE; HUMAN; IMMUNOFLUORESCENCE; INTERVIEW; LINKAGE ANALYSIS; MALE; MEDICAL RECORD; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; TANDEM REPEAT; X CHROMOSOME LINKED DISORDER;

EID: 2442672631     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00622.x     Document Type: Article

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