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: 3959G>A; Cys1320Tyr

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

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Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

Molecular Syndromology

Le Gloan, Laurianne L; Hauet, Quentin Q; David, Albert A; Hanna, Nadine N; Arfeuille, Chloé C; Arnaud, Pauline P; Boileau, Catherine C; Romefort, Bénédicte B; Benbrik, Nadir N; Gournay, Véronique V; Joram, Nicolas N; Baron, Olivier O; Isidor, Bertrand B

Publication Date: 2016-02

Variant appearance in text: FBN1: 3959G>A

PubMed Link: 27022329

Variant Present in the following documents:

• Main text

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