Identification of gross deletions in FBN1 gene by MLPA
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DOI: 10.1186/s40246-018-0178-y
Abstract: BackgroundMarfan 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… read more here.
Keywords: fbn1 gene; gross deletions; mfs; fbn1 deletions ... See more keywords