Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing

AIMS: Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease caused by germline mutations in 11 amyloidogenic precursor protein genes. One of the important but non-specific symptoms of amyloidosis is...

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Detalles Bibliográficos
Autores principales: Chyra Kufova, Zuzana, Sevcikova, Tereza, Januska, Jaroslav, Vojta, Petr, Boday, Arpad, Vanickova, Pavla, Filipova, Jana, Growkova, Katerina, Jelinek, Tomas, Hajduch, Marian, Hajek, Roman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204976/
https://www.ncbi.nlm.nih.gov/pubmed/29455155
http://dx.doi.org/10.1136/jclinpath-2017-204978

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204976/
https://www.ncbi.nlm.nih.gov/pubmed/29455155
http://dx.doi.org/10.1136/jclinpath-2017-204978

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