A regular expression is a pattern that the regular expression engine attempts to match in input text. A pattern consists of one or more character literals, operators, or constructs. For a brief introduction, see .NET Framework Regular Expressions.
(For our list of subjects with an imprinting defect, click here.). UBE3A Mutation. Malfunction of the UBE3A gene on the maternal chromosome #15 seems to be the cause of Angelman syndrome. In the case of a UBE3A mutation, there is a mistake in the genetic code of the UBE3A gene.
An inherited defect in the fibrillin-1 gene, or a new defect in the fibrillin-1 gene that occurs spontaneously, is what causes Marfan syndrome. Marfan syndrome is caused by a defect (mutation) in the fibrillin-1 (FBN1) gene. The FBN1 gene produces a protein that is essential for formatting the elastic fibers found in connective tissue.