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Journal article
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.
Sarkozy, Anna
Hicks, Debbie
Hudson, Judith
Laval, Steve H
Barresi, Rita
Hilton-Jones, David
Deschauer, Marcus
Harris, Elizabeth
Rufibach, Laura
Hwang, Esther
Bashir, Rumaisa
Walter, Maggie C
Krause, Sabine
Van den Bergh, Peter
[UCL]
Illa, Isabel
Pénisson-Besnier, Isabelle
De Waele, Liesbeth
Turnbull, Doug
Guglieri, Michela
Schrank, Bertold
Schoser, Benedikt
Seeger, Jürgen
Schreiber, Herbert
Gläser, Dieter
Eagle, Michelle
Bailey, Geraldine
Walters, Richard
Longman, Cheryl
Norwood, Fiona
Winer, John
Muntoni, Francesco
Hanna, Michael
Roberts, Mark
Bindoff, Laurence A
Brierley, Charlotte
Cooper, Robert G
Cottrell, David A
Davies, Nick P
Gibson, Andrew
Gorman, Gráinne S
Hammans, Simon
Jackson, Andrew P
Khan, Aijaz
Lane, Russell
McConville, John
McEntagart, Meriel
Al-Memar, Ali
Nixon, John
Panicker, Jay
Parton, Matt
Petty, Richard
Price, Christopher J
Rakowicz, Wojtek
Ray, Partha
Schapira, Anthony H
Swingler, Robert
Turner, Chris
Wagner, Kathryn R
Maddison, Paul
Shaw, Pamela J
Straub, Volker
Bushby, Kate
Lochmüller, Hanns
(2013)
Human Mutation — Vol. 34, no.8, p. 1111-1118 (2013)