A Gain-of-Function Mutation in NALCN...

Human Mutation 2015 / 08 Vol. 36; Iss. 8

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

Aoyagi, Kyota, Rossignol, Elsa, Hamdan, Fadi F., Mulcahy, Ben, Xie, Lin, Nagamatsu, Shinya, Rouleau, Guy A., Zhen, Mei, Michaud, Jacques L.
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Volume:
36
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22797
Date:
August, 2015
File:
PDF, 637 KB
english, 2015
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