Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy-Reference-Cited by-同舟云学术

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Published:2015-11-19 Issue:1 Volume:2 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Yamamoto Toshiyuki^ORCID,Shimojima Keiko,Shibata Takashi,Akiyama Mari,Oka Makio,Akiyama Tomoyuki,Yoshinaga Harumi,Kobayashi Katsuhiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201548.pdf

Reference30 articles.

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2. Kurian MA, McNeill A, Lin JP, Maher ER . Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol 2011; 53: 394–404.

3. Aicardi J, Castelein P . Infantile neuroaxonal dystrophy. Brain 1979; 102: 727–748.

4. Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006; 38: 752–754.

5. Arber CE, Li A, Houlden H, Wray S . Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. Neuropathol Appl Neurobiol (e-pub ahead of print 14 April 2015; doi: 10.1111/nan.12242).

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