Wiessner, Manuela ;
Roos, Andreas ;
Munn, Christopher J...
Wiessner , M , Roos , A , Munn , C J , Viswanathan , R , Whyte , T , Cox , D , Schoser , B , Sewry , C , Roper , H , Phadke , R , Marini Bettolo , C , Barresi , R , Charlton , R , Bönnemann , C G , Abath Neto , O , Reed , U C , Zanoteli , E , Araújo Martins Moreno , C , Ertl-Wagner , B , Stucka , R , De Goede , C , Borges da Silva , T , Hathazi , D , Dell'Aica , M , Zahedi , R P , Thiele , S , Müller , J , Kingston , H , Müller , S , Curtis , E , Walter , M C , Strom , T M , Straub , V , Bushby , K , Muntoni , F , Swan , L E , Lochmüller , H & Senderek , J 2017 , ' Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment ' , American Journal of Human Genetics , vol. 100 , no. 3 , pp. 523-536 . https://doi.org/10.1016/j.ajhg.2017.01.024.
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2017
