ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

Anna Sarkozy, Debbie Hicks, Judith Hudson, Steve H. Laval, Rita Barresi, David Hilton-Jones, Marcus Deschauer, Elizabeth Harris, Laura Rufibach, Esther Hwang, Rumaisa Bashir, Maggie C. Walter, Sabine Krause, Peter van den Bergh, Isabel Illa, Isabelle Penisson-Besnier, Liesbeth De Waele, Doug Turnbull, Michela Guglieri, Bertold SchrankBenedikt Schoser, Jurgen Seeger, Herbert Schreiber, Dieter Glaeser, Michelle Eagle, Geraldine Bailey, Richard Walters, Cheryl Longman, Fiona Norwood, John Winer, Francesco Muntoni, Michael Hanna, Mark Roberts, Laurence A. Bindoff, Charlotte Brierley, Robert G. Cooper, David A. Cottrell, Nick P. Davies, Andrew Gibson, Grainne S. Gorman, Simon Hammans, Andrew P. Jackson, Aijaz Khan, Russell Lane, John McConville, Meriel McEntagart, Ali Al-Memar, John Nixon, Jay Panicker, Matt Parton, Richard Petty, Christopher J. Price, Wojtek Rakowicz, Partha Ray, Anthony H. Schapira, Robert Swingler, Chris Turner, Kathryn R. Wagner, Paul Maddison, Pamela J. Shaw, Volker Straub, Kate Bushby, Hanns Lochmuller

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    Medicine and Dentistry

    Biochemistry, Genetics and Molecular Biology

    Neuroscience