Publications:

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: 6381T>A; Asp2127Glu

PubMed Link: 20886638

Variant Present in the following documents:

• Main text
• humu0031-E1915.pdf

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Switch region for pathogenic structural change in conformational disease and its prediction.

Plos One

Liu, Xin X; Zhao, Ya-Pu YP

Publication Date: 2010-01-11

Variant appearance in text: FBN1: D2127E

PubMed Link: 20111584

Variant Present in the following documents:

• pone.0008441.s001.pdf

View BVdb publication page