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Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.
- Source :
-
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2015 Feb 20; Vol. 42 (2), pp. 79-81. Date of Electronic Publication: 2015 Jan 10. - Publication Year :
- 2015
- Subjects :
- Child, Preschool
Dystonia diagnosis
Exome
Female
Hereditary Central Nervous System Demyelinating Diseases diagnosis
High-Throughput Nucleotide Sequencing
Humans
Magnetic Resonance Imaging
Microcephaly diagnosis
Models, Molecular
Nystagmus, Congenital diagnosis
Protein Conformation
Syndrome
Tubulin chemistry
Tubulin genetics
Dystonia genetics
Hereditary Central Nervous System Demyelinating Diseases genetics
Microcephaly genetics
Mutation
Nystagmus, Congenital genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1673-8527
- Volume :
- 42
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of genetics and genomics = Yi chuan xue bao
- Publication Type :
- Report
- Accession number :
- 25697102
- Full Text :
- https://doi.org/10.1016/j.jgg.2014.12.004