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Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

BACKGROUND: Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination...

詳細記述

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書誌詳細
出版年:Mol Cytogenet
主要な著者: Iourov, Ivan Y., Vorsanova, Svetlana G., Korostelev, Sergei A., Zelenova, Maria A., Yurov, Yuri B.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4608298/
https://ncbi.nlm.nih.gov/pubmed/26478745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0182-z
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