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Items: 2

1.

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1.

Overwater E, Van Rossum K, Baars MJH, Maugeri A, Houweling AC.

Neth Heart J. 2019 Jun 12. doi: 10.1007/s12471-019-1296-4. [Epub ahead of print] No abstract available.

PMID:
31190185
2.

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.

Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.

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