Mutations in INPP5K , Encoding a Phosphoinositide...

The American Journal of Human Genetics 2017 / 03 Vol. 100; Iss. 3

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

Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi
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Volume:
100
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2017.01.024
Date:
March, 2017
File:
PDF, 2.04 MB
english, 2017
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