Robuta

https://reflabgenetics.com/producto/marfan-syndrome-sequencing-fbn1-gene/ MARFAN SYNDROME , SEQUENCING FBN1 GENE - RefLab Genetics marfan syndrome sequencing gene https://pubmed.ncbi.nlm.nih.gov/12915484/ Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential... FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue. One of the unexplained features of MFS is the pathogenic... https://cris.maastrichtuniversity.nl/en/publications/an-fbn1-deep-intronic-mutation-in-a-familial-case-of-marfan-syndr/ An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for...