Ontology highlight
ABSTRACT:
SUBMITTER: Boye E
PROVIDER: S-EPMC1377543 | biostudies-other | 1998 Nov
REPOSITORIES: biostudies-other
Boye E E Mollet G G Forestier L L Cohen-Solal L L Heidet L L Cochat P P Grünfeld J P JP Palcoux J B JB Gubler M C MC Antignac C C
American journal of human genetics 19981101 5
Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene sc ...[more]