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Updated: Jun 14, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

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罕见的基因组拷贝数变异意味着双主动脉的新候选基因

Steven G Carlisle1, Hasan Albasha2, Hector I Michelena3

  • 1University of Texas Health Science Center at Houston, Houston, Texas, United States of America.

PloS one
|September 6, 2024
PubMed
概括

罕见的副本数变异 (CNVs) 与早期发病的双主动脉 (BAV) 疾病有关. 这些遗传变化,特别是涉及GATA4和DSCAM,可能在BAV发育和相关的大动脉并发症中发挥作用.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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