Items where Author is "Audrézet, MP"

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Journal article

QUEMENER, S., CHEN, J.M., CHUZHANOVA, N., BÉNECH, C., CASALS, T., MACEK, M., BIENVENU, T., MCDEVITT, T., FARRELL, P.M., LOUMI, O., MESSAOUD, T., CUPPENS, H., CUTTING, G.R., STENSON, P.D., GITEAU, K., AUDRÉZET, M.P., COOPER, D.N. and FÉREC, C., 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation, 31, pp. 421-428.

AUDRÉZET, M.P., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., LE, M., QUÉRÉ, I., COOPER, D.N. and FÉREC, C., 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation, 23, pp. 343-357.

FÉREC, C., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., EL, M., LE, M., QUÉRÉ, I. and AUDRÉZET, M.P., 2003. Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms. American Journal of Human Genetics, 73 (5), p. 559.

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