Alport syndrome caused by a 5' deletion within the COL4A5 gene.
Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
Renieri
A
A
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
Seri
M
M
Myers
J C
JC
Pihlajaniemi
T
T
Sessa
A
A
Rizzoni
G
G
De Marchi
M
M
D015139:Blotting, Southern; D002872:Chromosome Deletion; D003094:Collagen / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*
D015342:DNA Probes; D003094:Collagen