Genotype phenotype analysis in a family carrying truncating mutations in the titin gene

We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p.(Lys35963Asnfs*9) in exon 364, and a novel truncating mutation, NM_001267550.1:c.100704C > A p.(Tyr33568*) in exon 358 in the titin gene. The c.107889del mutation, which was maternally transm...

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Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Baisre-de León, Ada, Grewal, Raji P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033428/
https://www.ncbi.nlm.nih.gov/pubmed/33870097
http://dx.doi.org/10.36185/2532-1900-043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033428/
https://www.ncbi.nlm.nih.gov/pubmed/33870097
http://dx.doi.org/10.36185/2532-1900-043

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