Almost all polymerase II transcripts undergo alternative pre-mRNA splicing. Here, we review
the functions of alternative splicing events that have been experimentally determined. The …

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of
connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular …

Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research …

Thousands of mutations are identified yearly. Although many directly affect protein
expression, an increasing proportion of mutations is now believed to influence mRNA …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …

UMD–DMD France is a knowledgebase developed through a multicenter academic effort to
provide an up‐to‐date resource of curated information covering all identified mutations in …

Gene panels for hereditary breast and ovarian cancer risk assessment are gaining
acceptance, even though the clinical utility of these panels is not yet fully defined. Technical …

Abstract Infevers (Internet Fevers; http://fmf. igh. cnrs. fr/ISSAID/infevers), a website
dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in …

Pre-messenger RNA splicing is a fine-tuned process that generates multiple functional
variants from individual genes. Various cell types and developmental stages regulate …

Approximately two‐thirds of Duchenne muscular dystrophy (DMD) patients show intragenic
deletions ranging from one to several exons of the DMD gene and leading to a premature …