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: 5788G>C; Asp1930His

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Human Mutation

Hilhorst-Hofstee, Yvonne Y; Rijlaarsdam, Marry E B ME; Scholte, Arthur J H A AJ; Swart-van den Berg, Marietta M; Versteegh, Michel I M MI; van der Schoot-van Velzen, Iris I; Schäbitz, Hans-Joachim HJ; Bijlsma, Emilia K EK; Baars, Marieke J MJ; Kerstjens-Frederikse, Wilhelmina S WS; Giltay, Jacques C JC; Hamel, Ben C BC; Breuning, Martijn H MH; Pals, Gerard G

Publication Date: 2010-12

Variant appearance in text: FBN1: 5788G>C; Asp1930His

PubMed Link: 20886638

Variant Present in the following documents:

• Main text
• humu0031-E1915.pdf

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