Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. [electronic resource]
- Nephron 1994
- 444-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1660-8151
10.1159/000188020 doi
Adolescent Adult Aged Base Sequence Collagen--chemistry DNA--analysis Female Genotype Glycine--analysis Humans Italy--epidemiology Male Middle Aged Molecular Sequence Data Mutation Nephritis, Hereditary--epidemiology Pedigree Phenotype Serine--analysis