Identification of a new mutation in the α4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia

Nephrology Dialysis Transplantation

Volumn 16, Issue 10, 2001, Pages 2008-2012

  Ciccarese, Milco ^a,b   Casu, Domenica ^c   Wong, Fung Ki ^a   Faedda, Rossana ^b   Arvidsson, Sivonne ^a   Tonolo, Giancarlo ^b   Luthman, Holger ^a   Satta, Andrea ^b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF SASSARI   (Italy)

^c Nephrology Unit   (Italy)

Author keywords

Collagen; Haematuria; Hypercholesterolaemia

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; COLLAGEN TYPE 4 ALPHA2 CHAIN; COLLAGEN TYPE 4 ALPHA3; COLLAGEN TYPE 4 ALPHA4; COLLAGEN TYPE 4 ALPHA5; COLLAGEN TYPE 4 ALPHA6; DNA; LYSINE; UNCLASSIFIED DRUG;

ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 13Q; CHROMOSOME 2Q; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; COLLAGEN DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EUROPE; EYE DISEASE; FECHTNER SYNDROME; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GLOMERULUS BASEMENT MEMBRANE; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; KIDNEY FAILURE; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 0034791624     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/16.10.2008     Document Type: Article

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