@article{db0d175947244a189be699c99ce3ca97,
title = "Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: Case presentation",
keywords = "(frameshift) mutation, FBN1, Marfan syndrome (MFS), fibrillin-1, splicing",
author = "Ewa Wypasek and Potaczek, {Daniel P.} and Marcin Hydzik and Renata Stapor and Marta Raczkowska-Muraszko and Janneke Weiss and Alessandra Maugeri and Anetta Undas",
year = "2018",
month = mar,
day = "28",
doi = "https://doi.org/10.1515/cclm-2017-0042",
language = "English",
volume = "56",
pages = "e87--e91",
journal = "Clinical chemistry and laboratory medicine",
issn = "1434-6621",
publisher = "Walter de Gruyter GmbH",
number = "4",
}