Publications:

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports

Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R

Publication Date: 2017-08-30

Variant appearance in text: FBN1: 5084G>A; Cys1695Tyr

PubMed Link: 28855619

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9785.pdf

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Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

American Journal Of Medical Genetics. Part A

Cecchi, Alana A; Ogawa, Naomi N; Martinez, Hugo R HR; Carlson, Alicia A; Fan, Yuxin Y; Penny, Daniel J DJ; Guo, Dong-chuan DC; Eisenberg, Steven S; Safi, Hazim H; Estrera, Anthony A; Lewis, Richard A RA; Meyers, Deborah D; Milewicz, Dianna M DM

Publication Date: 2013-09

Variant appearance in text: FBN1: 5084G>A; C1695Y

PubMed Link: 23897642

Variant Present in the following documents:

• Main text

View BVdb publication page