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Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy
Mutations in PLA2G6, which encodes calcium-independent phospholipase A(2) group VIA (iPLA2-VIA), underlie the autosomal recessive disorder infantile neuroaxonal dystrophy (INAD). INAD typically presents in the first year of life, and leads to optic atrophy and psychomotor regression. We have examine...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2975838/ https://ncbi.nlm.nih.gov/pubmed/20813170 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.brainresbull.2010.08.011 |
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