Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

PURPOSE: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein’s structure. METH...

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Detalles Bibliográficos
Autores principales: Niel-Butschi, Florence, Kantelip, Bernadette, Iwaszkiewicz, Justyna, Zoete, Vincent, Boimard, Mathieu, Delpech, Marc, Bourges, Jean-Louis, Renard, Gilles, D’Hermies, François, Pisella, Pierre-Jean, Hamel, Christian, Delbosc, Bernard, Valleix, Sophie
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102024/
https://www.ncbi.nlm.nih.gov/pubmed/21617751

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