Matches in UGent Biblio for { <https://biblio.ugent.be/publication/140966#aggregation> ?p ?o. }
Showing items 1 to 36 of
36
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B110173.
- aggregation creator B110174.
- aggregation creator B110175.
- aggregation creator B110176.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2001".
- aggregation format "application/pdf".
- aggregation hasFormat 140966.bibtex.
- aggregation hasFormat 140966.csv.
- aggregation hasFormat 140966.dc.
- aggregation hasFormat 140966.didl.
- aggregation hasFormat 140966.doc.
- aggregation hasFormat 140966.json.
- aggregation hasFormat 140966.mets.
- aggregation hasFormat 140966.mods.
- aggregation hasFormat 140966.rdf.
- aggregation hasFormat 140966.ris.
- aggregation hasFormat 140966.txt.
- aggregation hasFormat 140966.xls.
- aggregation hasFormat 140966.yaml.
- aggregation isPartOf urn:issn:0307-6938.
- aggregation language "eng".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.".
- aggregation abstract "Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have investigated an Italian child affected with recessive DEB (RDEB) and demonstrated that he was homozygous for the mutation R226X in the type VII collagen gene (COL7A1), leading to absence of type VIT collagen at the dermal-epidermal junction. There was no family history of inherited skin blistering but the child's father was affected by Marfan syndrome, an autosomal dominant connective tissue disorder that results from mutations in the fibrillin-1 gene (FBN1). Analysis of this gene showed that the RDEB patient and his father were both heterozygous for a novel FBN1 mutation, C1971Y. This mutation affects one of the six obligate cysteine residues within one of the calcium-binding epidermal growth factor-like regions of the protein. At the age of 2-years the RDEB patient showed signs of early aortic dilatation, suggesting that he is likely to develop a Marfan syndrome phenotype in the future. This is a unique case of these two coexisting inherited disorders.".
- aggregation authorList BK281751.
- aggregation endPage "713".
- aggregation issue "8".
- aggregation startPage "710".
- aggregation volume "26".
- aggregation aggregates 916859.
- aggregation isDescribedBy 140966.
- aggregation similarTo LU-140966.