A novel COL4A3 mutation causes autosomal-recessive alport syndrome in a large Turkish family

Genetic Testing and Molecular Biomarkers

Volumn 17, Issue 3, 2013, Pages 260-264

  Uzak, Asli Subasioglu ^a   Tokgoz, Bulent ^a   Dundar, Munis ^a   Tekin, Mustafa ^b,c  

^a ERCIYES UNIVERSITY   (Turkey)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c ANKARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 3; COLLAGEN TYPE 4 ALPHA 4; COLLAGEN TYPE 4 ALPHA 5; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 2Q; DNA EXTRACTION; EXON; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; TURKEY (REPUBLIC);

ADULT; AUTOANTIGENS; COLLAGEN TYPE IV; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; TURKEY;

EID: 84874338790     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2012.0340     Document Type: Article

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