Publications:

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 8547T>G; Tyr2849Ter

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Jensen, Sacha A SA; Aspinall, Georgia G; Handford, Penny A PA

Publication Date: 2014-07-15

Variant appearance in text: FBN1: Y2849X

PubMed Link: 24982166

Variant Present in the following documents:

• Main text

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The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.

Molecular Syndromology

Potter, K J KJ; Creighton, S S; Armstrong, L L; Eydoux, P P; Duncan, W W; Penny, D J DJ; Fan, Y Y; Gibson, W T WT

Publication Date: 2013-03

Variant appearance in text: FBN1: Tyr2849X

PubMed Link: 23653584

Variant Present in the following documents:

• Main text

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