Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders...
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
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Author / Creator
Renner, Sina , Schüler, Helke , Alawi, Malik , Kolbe, Verena , Rybczynski, Meike , Woitschach, Rixa , Sheikhzadeh, Sara , Stark, Veronika C. , Olfe, Jakob , Roser, Elke , Seggewies, Friederike Sophia , Mahlmann, Adrian , Hempel, Maja , Hartmann, Melanie J. , Hillebrand, Mathias , Wieczorek, Dagmar , Volk, Alexander Erich , Kloth, Katja , Koch-Hogrebe, Margarete , Abou Jamra, Rami , Mitter, Diana , Altmüller, Janine , Wey-Fabrizius, Alexandra , Petersen, Christine , Rau, Isabella , Borck, Guntram , Kubisch, Christian , Mir, Thomas S. , von Kodolitsch, Yskert , Kutsche, Kerstin and Rosenberger, Georg
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management.
Methods
We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome seque...
Alternative Titles
Full title
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Authors, Artists and Contributors
Author / Creator
Schüler, Helke
Alawi, Malik
Kolbe, Verena
Rybczynski, Meike
Woitschach, Rixa
Sheikhzadeh, Sara
Stark, Veronika C.
Olfe, Jakob
Roser, Elke
Seggewies, Friederike Sophia
Mahlmann, Adrian
Hempel, Maja
Hartmann, Melanie J.
Hillebrand, Mathias
Wieczorek, Dagmar
Volk, Alexander Erich
Kloth, Katja
Koch-Hogrebe, Margarete
Abou Jamra, Rami
Mitter, Diana
Altmüller, Janine
Wey-Fabrizius, Alexandra
Petersen, Christine
Rau, Isabella
Borck, Guntram
Kubisch, Christian
Mir, Thomas S.
von Kodolitsch, Yskert
Kutsche, Kerstin
Rosenberger, Georg
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2179430597
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179430597
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0435-z
