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.
It is widely believed that Marfan syndrome is a genetic disorder that is caused by a fibrillin mutation (specifically a fibrillin-1 mutation). But is it? Multiple studies confirm that the majority of people with Marfan syndrome have not been found to have any fibrillin-1 mutations.