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

  1. Lookup NU author(s)
  2. Dr Andreas Roos
  3. Daniel Cox
  4. Dr Chiara Marini Bettolo
  5. Dr Rita Barresi
  6. Dr Richard Charlton
  7. Dr Juliane Mueller
  8. Professor Volker Straub
  9. Professor Katherine Bushby
  10. Professor Hanns Lochmuller
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
JournalAmerican Journal of Human Genetics
Year2017
Volume100
Issue3
Pages523-536
ISSN (print)0002-9297
ISSN (electronic)1537-6605
Full text is available for this publication:
PublisherCell Press
URLhttps://doi.org/10.1016/j.ajhg.2017.01.024
DOI10.1016/j.ajhg.2017.01.024
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