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.

von Kodolitsch, Yskert

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. [electronic resource] - Journal of human genetics Sep 2015 - 465-6 p. digital

Publication Type: Journal Article; Comment

1435-232X

10.1038/jhg.2015.95 doi


Humans
Male
Marfan Syndrome--genetics
Microfilament Proteins--genetics