Jacques Demaille

Four Novel Dystrophin Point Mutations: Detection by Protein Truncation Test and Transcript Analysis in Lymphocytes from Duchenne Muscular Dystrophy Patients

M. Claustres, C. Bareil, J. Demaille, 1996, European journal of human genetics : EJHG.

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

M. Claustres, J. Demaille, S. Tuffery-Giraud, 1999, Human mutation.

Base substitutions in the human dystrophin gene: Detection by using the single‐strand conformation polymorphism (SSCP) technique

M. Claustres, J. Demaille, S. Tuffery, 1993, Human mutation.

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

M. Claustres, P. Godard, J. Demaille, 1995, Human mutation.