Other publications in Human Mutation

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malform...

Published in Jul 31, 2013

ACTN3 Genotype, Athletic Status, and Life Course Physical Capability: Meta-Analysis of the Published...

Published in Sep 01, 2011

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacol...

Published in August 2011

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation...

Published in Jan 01, 2009

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Published in Aug 31, 2002