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A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

BACKGROUND: Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of CNVs in chromosome Xp22.31 was explored. METHODS: G-banding and SNP-array techni...

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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Zhuang, Jianlong, Wang, Yuanbai, Zeng, Shuhong, Lv, Chunling, Lin, Yiming, Jiang, Yuying
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6907354/
https://ncbi.nlm.nih.gov/pubmed/31857824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0461-1
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