An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Xiao Y., Yang K-Q., Zhou X-L., Shen Y-Q., Lu C-X., Zhang X.

DOI

10.1016/j.cca.2015.01.019

Type

Journal article

Journal

Clinica chimica acta; international journal of clinical chemistry

Publication Date

03/2015

Volume

442

Pages

84 - 86

Addresses

Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No 167, Beilishi Road, Beijing 100037, China.

Keywords

Humans, Marfan Syndrome, Aortic Aneurysm, Microfilament Proteins, Angiography, DNA Mutational Analysis, RNA Splicing, Base Sequence, Exons, Molecular Sequence Data, Female, Fibrillin-1, Fibrillins

Permalink Original publication