Publications:

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: 3349T>C; Cys1117Arg

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

View BVdb publication page

Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.

Scientific Reports

Haller, Stephen J SJ; Roitberg, Adrian E AE; Dudley, Andrew T AT

Publication Date: 2020-10-08

Variant appearance in text: FBN1: C1117R

PubMed Link: 33033378

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73969.pdf

View BVdb publication page

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Medicine

Seo, Go Hun GH; Kim, Yoon-Myung YM; Kang, Eungu E; Kim, Gu-Hwan GH; Seo, Eul-Ju EJ; Lee, Beom Hee BH; Choi, Jin-Ho JH; Yoo, Han-Wook HW

Publication Date: 2018-05

Variant appearance in text: FBN1: 3349T>C; Cys1117Arg

PubMed Link: 29768367

Variant Present in the following documents:

• medi-97-e10767.pdf

View BVdb publication page