Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle-Reference-Cited by-同舟云学术

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle

Published:2023-09-12 Issue:1 Volume:69 Page:53-58
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Fusco Carmela,Nardella Grazia,Morlino Silvia,Micale Lucia,Tragni Vincenzo,Agolini Emanuele^ORCID,Novelli Antonio,Massuras Stefania,Giambra Vincenzo,Pierri Ciro Leonardo,Castori Marco

Funder

Ministry of Health, Italy | Agenzia Italiana del Farmaco, Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-023-01193-7.pdf

Reference20 articles.

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3. Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, et al. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. Hum Genet. 2020;139:461–72.

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5. Shi J, Sun J, Chen Y, Zhu M, Wang Q, Lu C. et al. Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39:703–7.