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

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

Research output: Contribution to journalComment/Letter to the editorAcademic

Original languageEnglish
Pages (from-to)e87-e91
JournalClinical Chemistry and Laboratory Medicine
Volume56
Issue number4
DOIs
Publication statusPublished - 28 Mar 2018

Cite this

Wypasek, Ewa ; Potaczek, Daniel P. ; Hydzik, Marcin ; Stapor, Renata ; Raczkowska-Muraszko, Marta ; Weiss, Janneke ; Maugeri, Alessandra ; Undas, Anetta. / Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome : Case presentation. In: Clinical Chemistry and Laboratory Medicine. 2018 ; Vol. 56, No. 4. pp. e87-e91.
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title = "Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: Case presentation",
keywords = "(frameshift) mutation, FBN1, fibrillin-1, Marfan syndrome (MFS), 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 = "3",
day = "28",
doi = "10.1515/cclm-2017-0042",
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volume = "56",
pages = "e87--e91",
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Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome : Case presentation. / Wypasek, Ewa; Potaczek, Daniel P.; Hydzik, Marcin; Stapor, Renata; Raczkowska-Muraszko, Marta; Weiss, Janneke; Maugeri, Alessandra; Undas, Anetta.

In: Clinical Chemistry and Laboratory Medicine, Vol. 56, No. 4, 28.03.2018, p. e87-e91.

Research output: Contribution to journalComment/Letter to the editorAcademic

TY - JOUR

T1 - Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome

T2 - Case presentation

AU - Wypasek, Ewa

AU - Potaczek, Daniel P.

AU - Hydzik, Marcin

AU - Stapor, Renata

AU - Raczkowska-Muraszko, Marta

AU - Weiss, Janneke

AU - Maugeri, Alessandra

AU - Undas, Anetta

PY - 2018/3/28

Y1 - 2018/3/28

KW - (frameshift) mutation

KW - FBN1

KW - fibrillin-1

KW - Marfan syndrome (MFS)

KW - splicing

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U2 - 10.1515/cclm-2017-0042

DO - 10.1515/cclm-2017-0042

M3 - Comment/Letter to the editor

VL - 56

SP - e87-e91

JO - Clinical Chemistry and Laboratory Medicine

JF - Clinical Chemistry and Laboratory Medicine

SN - 1434-6621

IS - 4

ER -