Article
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.
Nephron - 1 Jan 1994
Renieri A, Meroni M, Sessa A, Battini G, Serbelloni P, Torri Tarelli L, Seri M, Galli L, De Marchi M
Abstract excerpt
In a large Italian family with adult-onset Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV)-chain of glomerular basement membrane collagen, revealed a GGC-->AGC change in exon 38, resulting in substitution of a serine for a glycine in position 1143 of the poly...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Collagen
- DNA
- Female
- Genotype
- Glycine
- Humans
- Italy
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- Pedigree
- Phenotype