2008
DOI: 10.1038/ejhg.2008.207
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Abstract: This paper introduces a novel method for theoretical determination of amino acid substitution groups. The method here involves making a binary matrix based on 48 qualitative physicochemical properties and calculating a substitution matrix based on this using dot products. Isolated groups with high scores are determined to be valid substitution groups and conserved groups are derived from these valid groups. 258 valid groups and 31 conserved groups are found.

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Cited by 70 publications
(80 citation statements)
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“…3). This overrepresentation of exons 25 and 26 was not found in other clinical manifestations (14). No compound heterozygosity was found.…”
Section: Resultsmentioning
confidence: 73%
“…3). This overrepresentation of exons 25 and 26 was not found in other clinical manifestations (14). No compound heterozygosity was found.…”
Section: Resultsmentioning
confidence: 73%
“…The clinical information required included a range of qualitative and quantitative clinical parameters, including cardiovascular, ophthalmological, skeletal, skin, lung and dural manifestations. These patients were collected for the purpose of a large-scale genotype-phenotype correlation study (18), and the cohort was further investigated for other analyses (11,12,(21)(22)(23).…”
Section: Methodsmentioning
confidence: 99%
“…Thus, our findings fill the gap that exists in the literature for clinical features and complications reported between syndromic populations and pure aortic aneurysm. 4,8 Therefore, as is now 24 In our centers, patients with a TGFBR2 gene mutation were managed according to the rules developed for Marfan syndrome. 15,16 Our results show that adhering to these rules did not cause excess deaths (Figure 2).…”
Section: Cardiovascular Featuresmentioning
confidence: 99%