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FLNA genomic rearrangements cause periventricular nodular heterotopia
OBJECTIVE: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. METHODS: Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that di...
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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: |
Lippincott Williams & Wilkins
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3280053/ https://ncbi.nlm.nih.gov/pubmed/22238415 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31824365e4 |
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