Identification of gross deletions in FBN1 gene by MLPA
Abstract Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a smal...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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BMC
2018-10-01
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| Cyfres: | Human Genomics |
| Pynciau: | |
| Mynediad Ar-lein: | http://link.springer.com/article/10.1186/s40246-018-0178-y |
| Tagiau: |
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