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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

Document Type

Article

Author

Fortugno, P.; Brancati, F.; Monetta, R.; De Luca, C.; Di Leandro, L.; Di Daniele, A.; Ippoliti, R.; Angelucci, F.; Di Cesare, E.; Cinquina, V.; Zoppi, N.; Colombi, M.; Ritelli, M.; Rigon, C.; Boaretto, F.; Salviati, L.; De Domenico, E.; De Paulis, R.

Source

In: European Journal of Human Genetics. (European Journal of Human Genetics, May 2023, 31(5):596-601)

Subject

Language

English

ISSN

14765438
10184813

Online Access

Full Text (ProQuest Central) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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