Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.
第一作者:
Xiaoli,Chen
作者:
医学主题词
碱基序列(Base Sequence);鳃耳肾综合征(Branchio-Oto-Renal Syndrome);染色体图(Chromosome Mapping);染色体, 人, 8对(Chromosomes, Human, Pair 8);比较基因组杂交(Comparative Genomic Hybridization);内源性逆转录病毒(Endogenous Retroviruses);女(雌)性(Female);基因缺失(Gene Deletion);听觉丧失(Hearing Loss);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);核蛋白质类(Nuclear Proteins);有机阴离子转运子(Organic Anion Transporters);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质酪氨酸磷酸酶类(Protein Tyrosine Phosphatases);序列比对(Sequence Alignment);磺基转移酶类(Sulfotransferases);体层摄影术, X线计算机(Tomography, X-Ray Computed)
DOI
10.1186/s12881-014-0090-9
PMID
25135225
发布时间
2021-10-21
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