Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

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Quemener, S, Chen, JM, Chuzhanova, N ORCID: https://orcid.org/0000-0002-4655-3618, Bénech, C, Casals, T, Macek, M, Bienvenu, T, McDevitt, T, Farrell, PM, Loumi, O, Messaoud, T, Cuppens, H, Cutting, GR, Stenson, PD, Giteau, K, Audrézet, MP, Cooper, DN 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.

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Item Type:	Journal article
Publication Title:	Human Mutation
Creators:	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.
Date:	2010
Volume:	31
Divisions:	Schools > School of Science and Technology
Record created by:	EPrints Services
Date Added:	09 Oct 2015 10:14
Last Modified:	09 Jun 2017 13:23
URI:	https://irep.ntu.ac.uk/id/eprint/9856