Autosomal dominant alport syndrome caused by a COL4A3 splice site mutation

Kidney International

Volumn 58, Issue 5, 2000, Pages 1870-1875

  Van der Loop, Frank T L ^a,b,c,d,e   Heidet, Laurence ^a,b,c,d,e   Timmer, Erika D J ^a,b,c,d,e   Van den Bosch, Bianca J C ^a,b,c,d,e   Leinonen, Anu ^a,b,c,d,e   Antignac, Corinne ^a,b,c,d,e   Jefferson, J Ashley ^a,b,c,d,e   Maxwell, A Peter ^a,b,c,d,e   Monnens, Leo A H ^a,b,c,d,e   Schroder, Cornelis H ^a,b,c,d,e   Smeets, Hubert J M ^a,b,c,d,e  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY OF KANSAS   (United States)

^d BELFAST CITY HOSPITAL   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Compound heterozygosity; Exon skipping; Genotype phenotype correlation; Glomerular basement membrane; Type IV collagen

Indexed keywords

COLLAGEN TYPE 4; COMPLEMENTARY DNA;

ADULT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOME; GENOTYPE; GLOMERULONEPHRITIS; GLOMERULUS BASEMENT MEMBRANE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033746069     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00358.x     Document Type: Article

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