Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Jon Moulton Fri Feb 10, 2017 12:40 pm
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Neto OA, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, da Silva TB, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet. 2017;[Epub ahead of print] doi:10.1016/j.ajhg.2017.01.024
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 62
Location : Philomath, Oregon, USA -
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