Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner Andreas Roos; Christopher J Munn; Ranjith Viswanathan; Tamieka Whyte; Dan Cox; Benedikt Schoser; Caroline Sewry; Helen Roper; Rahul Phadke; Chiara Marini Bettolo; Rita Barresi; Richard Charlton; Carsten G Bönnemann; Osório Abath Neto; Umbertina C Reed; Edmar Zanoteli; Cristiane Araújo Martins Moreno; Birgit Ertl-Wagner; Rolf Stucka; Christian De Goede; Tamiris Borges da Silva; Denisa Hathazi; Margherita Dell’Aica; René P Zahedi; Simone Thiele; Juliane Müller; Helen Kingston; Susanna Müller; Elizabeth Curtis; Maggie C Walter; Tim M Strom; Volker Straub; Kate Bushby; Francesco Muntoni; Laura E Swan; Hanns Lochmüller; Jan Senderek

American Journal of Human Genetics Chicago v. 100, n. 3, p. 523-536, 2017

Chicago 2017

Localização: FM - Fac. Medicina    (BCSEP 091 2017 )(Acessar)