Title : Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

Pub. Date : 2000 Feb

PMID : 10652016






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The two other novel mutations were the GAG to AAG transition, leading to a Glu447Lys and the GAC to GTC transition, predicting an Asp819Val substitution in the nephrin protein. Glycosaminoglycans NPHS1 adhesion molecule, nephrin Homo sapiens