Publications:

No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice.

Vascular Biology (Bristol, England)

Hibender, Stijntje S; Li, Siyu S; Postma, Alex V AV; Hoogeland, Myrthe E ME; Klaver, Denise D; Pouw, Richard B RB; Niessen, Hans W HW; Driessen, Antoine Hg AH; Koolbergen, David R DR; de Vries, Carlie Jm CJ; Baars, Marieke Jh MJ; Houweling, Arjan C AC; Krijnen, Paul A PA; de Waard, Vivian V

Publication Date: 2022-10-01

Variant appearance in text: FBN1: 937T>G; C313G

PubMed Link: 36279189

Variant Present in the following documents:

• Main text
• VB-22-0016.pdf

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Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Overwater, E E; Van Rossum, K K; Baars, M J H MJH; Maugeri, A A; Houweling, A C AC

Publication Date: 2019-12

Variant appearance in text: FBN1: Cys313Gly

PubMed Link: 31190185

Variant Present in the following documents:

• Main text
• 12471_2019_Article_1296.pdf

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