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