[Thin basement membrane nephropathy: a mutation in COL4A5 gene].
Copyright policy )[Thin basement membrane nephropathy: a mutation in COL4A5 gene].
To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families.PCR-SSCP analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after cloning in pGEM-T easy vectors.In one of the three families a glycine to alanine substitution was identified in the collagenous region of the COL4A5 gene, and the mutation cosegregates with hematuria in this family.Some of thin basement membrane nephropathy may be due to mutation of COL4A5 gene.
- Peking University First Hospital China (People's Republic of)
Adult, Collagen Type IV, Adolescent, Mutation, Humans, Female, Glomerulonephritis, Membranous, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational
Adult, Collagen Type IV, Adolescent, Mutation, Humans, Female, Glomerulonephritis, Membranous, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).3 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!