Publications:

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics

Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B

Publication Date: 2015-12-18

Variant appearance in text: FBN1: Tyr2113X

PubMed Link: 26684006

Variant Present in the following documents:

• Main text
• 12881_2015_Article_260.pdf

View BVdb publication page

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular Vision

Dong, Jiamei J; Bu, Juan J; Du, Wei W; Li, Yuan Y; Jia, Yanlei Y; Li, Jianchang J; Meng, Xiaoli X; Yuan, Minghui M; Peng, Xiaojuan X; Zhou, Aimin A; Wang, Lejin L

Publication Date: 2012

Variant appearance in text: FBN1: Y2113X

PubMed Link: 22262941

Variant Present in the following documents:

• Main text
• mv-v18-81.pdf

View BVdb publication page

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Genes & Development

Caputi, Massimo M; Kendzior, Raymond J RJ; Beemon, Karen L KL

Publication Date: 2002-07-15

Variant appearance in text: FBN1: Y2113X

PubMed Link: 12130535

Variant Present in the following documents:

• Main text

View BVdb publication page