Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically re...

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Veröffentlicht in:	Human mutation 2003-09, Vol.22 (3), p.199-208
Hauptverfasser:	Collod‐Béroud, Gwenaëlle, Le Bourdelles, Saga, Ades, Lesley, Ala‐Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C., Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Cattle Databases, Genetic Databases, Genetic - trends Dogs FBN1 Fibrillin-1 fibrillinopathies Fibrillins Genetics Humans Life Sciences Marfan Syndrome Marfan Syndrome - genetics MFS Mice Microfilament Proteins Microfilament Proteins - genetics Mutation Polymorphism, Genetic Rats
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