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Article

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.

Clinical chemistry and laboratory medicine - 28 Mar 2018

Wypasek Ewa, Potaczek Daniel P, Hydzik Marcin, Stapor Renata, Raczkowska-Muraszko Marta, Weiss Janneke, Maugeri Alessandra, Undas Anetta

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Identifiers

PMID: 29220879
DOI: 10.1515/cclm-2017-0042

Genes

FBN1

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Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.PMID 29220879Read ↗

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