Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

J Hum Genet. 2015 Sep;60(9):465-6. doi: 10.1038/jhg.2015.95. Epub 2015 Jul 30.

Authors

Yskert von Kodolitsch¹, Kerstin Kutsche²

Affiliations

¹ German Aorta Centre of Hamburg at the Centre of Cardiology and Cardiovascular Surgery of the University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
² Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

PMID: 26223180
DOI: 10.1038/jhg.2015.95

No abstract available

Publication types

Comment

MeSH terms

Humans
Male
Marfan Syndrome / genetics*
Microfilament Proteins / genetics*

Substances

Microfilament Proteins