Publications:

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics

Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER

Publication Date: 2007-09-12

Variant appearance in text: FBN1: L1412X

PubMed Link: 17850668

Variant Present in the following documents:

• Main text

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: L1412X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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