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Article

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in <i>FBN1</i>

2019-08-08

Abstract excerpt

The molecular and genetic mechanisms by which different single nucleotide variant (SNV) alleles in specific genes, or at the same genetic locus, bring about distinct disease phenotypes often remain unclear. Allelic truncating mutations of fibrillin-1(FBN1) cause either classical Marfan syndrome (MFS) or a more severe phenotype associated with Marfanoid-progeroid-lipodystrophy syndrome (MPLS). A total of three Mar...

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Literature Corpus work
8826f89e-0c08-5d08-8572-56dd8fca524b
DOI
10.1101/726646
Open publication

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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in <i>FBN1</i>DOI 10.1101/726646
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