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

Lookup NU author(s): Dr Andreas Roos, Daniel Cox, Dr Chiara Marini Bettolo, Dr Rita Barresi, Dr Richard Charlton, Dr Juliane Mueller, Professor Volker Straub, Professor Katherine Bushby, Professor Hanns Lochmuller

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Author(s): Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J

Publication type: Article

Journal: American Journal of Human Genetics

Year: 2017

Volume: 100

Issue: 3

Pages: 523-536

Online publication date: 09/02/2017

Acceptance date: 12/01/2017

Print publication date: 02/03/2017

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2017.01.024

DOI: 10.1016/j.ajhg.2017.01.024


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