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Human Laminin b2 Gene Mutations Explained by srk kul is a document available to read on EtoBox.
This document discusses mutations in the LAMB2 gene, which are primarily associated with Pierson syndrome, characterized by congenital nephrotic syndrome and various ocular and neurological abnormalities. It reviews 49 mutations, including 12 novel ones, and explores the genotype-phenotype correlations, indicating that truncating mutations are common while missense mutations may result in milder disease variants. The findings suggest that the level of residual laminin b2 function may influence the clinical
- Author
- srk kul
- Language
- EN