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.
The full mutation causes the FMR1 gene to shut down or âmethylateâ in one region. Normally, the FMR1 gene produces an important protein called FMRP. When the gene is turned off, the individual does not make this protein. The lack of this specific protein is what causes Fragile X syndrome.