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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2018
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| Materias: | |
| 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 |