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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. (2017)

First Author: Wiessner M

Attributed to: Examining the coupling of small GTPase activation and metabolism of the phosphoinositide lipid PI(3,5)P2 in Charcot Marie Tooth Type 4 Neuropathies funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2017.01.024

PubMed Identifier: 28190456

Publication URI: http://europepmc.org/abstract/MED/28190456

Type: Journal Article/Review

Volume: 100

Parent Publication: American journal of human genetics

Issue: 3

ISSN: 0002-9297