Other publications in Human Molecular Genetics

CAPN5mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and tri...

Published in May 19, 2015

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Published in Mar 01, 2015

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European desc...

Published in Apr 30, 2014

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Published in Dec 20, 2013

Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic l...

Published in Jul 01, 2013