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Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
AIM: The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Chi...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2010
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2895016/ https://ncbi.nlm.nih.gov/pubmed/20187884 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-8749.2010.03628.x |
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