Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination

Ofer Isakov; Dorit Lev; Lubov Blumkin; Gershon Celniker; Esther Leshinsky-Silver; Noam Shomron

doi:10.1016/j.jgg.2014.12.004

Volume 42 Issue 2

Feb. 2015

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Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination

doi: 10.1016/j.jgg.2014.12.004

a
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
b
Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel
c
Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel
d
Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, Israel
e
Molecular Genetic Laboratory, Wolfson Medical Center, Holon 58100, Israel

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Corresponding author: E-mail address: nshomron@post.tau.ac.il (Noam Shomron)
Received Date: 2014-10-05
Accepted Date: 2014-12-30
Rev Recd Date: 2014-12-26

Available Online: 2015-01-10

Publish Date: 2015-02-20

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References(17)

References

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