Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases

Conclusion: The intronic region polymorphism may have a role in intron splicing whereas the polymorphism in exon 10 results in amino acid change (Val to Gly). These polymorphisms are disease associated as these are found in CdLS patients only and not in controls.
Source: Indian Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research