Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects

Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biological impacts of such abnormalities have seldomly been analyzed at the molecular level. Previously, we reported a Japanese female patient with severe developmental defects. The pati...

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Detalles Bibliográficos
Autores principales: Yoshida-Tanaka, Kugui, Ikemoto, Ko, Kuribayashi, Ryoji, Unoki, Motoko, Takano, Takako, Fujimoto, Akihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449678/
https://www.ncbi.nlm.nih.gov/pubmed/37432452
http://dx.doi.org/10.1007/s00439-023-02583-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449678/
https://www.ncbi.nlm.nih.gov/pubmed/37432452
http://dx.doi.org/10.1007/s00439-023-02583-9

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