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.
Two human genetic disorders, PraderâWilli syndrome (PWS, MIM 176270) and Angelman syndrome (AS, MIM 105830), result from rearrangements of chromosome 15q11-q13, an imprinted region of the human genome. Despite their rarity, disorders such as PWS and AS can give focused insight into the role of genomic imprinting and imprinted genes in human development. View Full Article (HTML) Enhanced Article (HTML) Get PDF (176K) Get PDF (176K)