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: 3219A>T; Glu1073Asp

PubMed Link: 33735269

Variant Present in the following documents:

• pone.0248532.s001.xlsx, sheet 1

View BVdb publication page

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Gene

Sakai, Lynn Y LY; Keene, Douglas R DR; Renard, Marjolijn M; De Backer, Julie J

Publication Date: 2016-10-10

Variant appearance in text: FBN1: E1073D

PubMed Link: 27437668

Variant Present in the following documents:

• Main text

View BVdb publication page

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg

Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C

Publication Date: 2009-09

Variant appearance in text: FBN1: 3219A>T

PubMed Link: 19293843

Variant Present in the following documents:

• Main text

View BVdb publication page