A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis-Reference-Cited by-同舟云学术

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Published:2020-01-24 Issue:4 Volume:139 Page:461-472
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Arnaud Pauline,Racine Caroline,Hanna Nadine,Thevenon Julien,Alessandri Jean-Luc,Bonneau Dominique,Clayton-Smith Jill,Coubes Christine,Delobel Bruno,Dupuis-Girod Sophie,Gouya Laurent,Odent Sylvie,Carmignac Virginie,Thauvin-Robinet Christel,Le Goff Carine,Jondeau Guillaume,Boileau Catherine,Faivre Laurence

Funder

Conseil régional de Bourgogne-Franche-Comté

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02102-9.pdf

Reference42 articles.

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3. Arnaud P, Hanna N, Benarroch L et al (2019) Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). Genet Med Off J Am Coll Med Genet. https://doi.org/10.1038/s41436-019-0444-y