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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Clapham, K.R., Yu, T.W., Ganesh, V.S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M.M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C.A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2012
Pynciau:
Articles
Mynediad Ar-lein: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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