Publications:

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: 3545G>C; Cys1182Ser

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

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Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

The Journal Of Biological Chemistry

Kirschner, Ryan R; Hubmacher, Dirk D; Iyengar, Garud G; Kaur, Jasvir J; Fagotto-Kaufmann, Christine C; Brömme, Dieter D; Bartels, Rainer R; Reinhardt, Dieter P DP

Publication Date: 2011-09-16

Variant appearance in text: FBN1: C1182S

PubMed Link: 21784848

Variant Present in the following documents:

• Main text

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