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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A...

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Publicat a:Mol Cytogenet
Autors principals: Wang, Jia-Chi, Mahon, Loretta W., Ross, Leslie P., Anguiano, Arturo, Owen, Renius, Boyar, Fatih Z.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5111223/
https://ncbi.nlm.nih.gov/pubmed/27891178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0291-3
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