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- W2140090198 abstract "The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct neurogenetic disorders that are caused by a deficiency of paternal (PWS) or maternal (AS) contributions to chromosome 15. The affected genes are located in an imprinted chromosomal domain of 2 Mb, which is controlled by an imprinting center (IC). The IC has been mapped to a 100-kb region including the SNRPN gene and appears to have a bipartite structure. Mutations of the proximal part of the IC block the paternal-->maternal imprint switch during female gametogenesis, whereas mutations of the distal part of the IC block the maternal-->paternal imprint switch during, male gametogenesis. Imprinting involves differential DNA methylation, which appears to be instrumental in the regulation of gene activity and can be used for diagnostic purposes." @default.
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- W2140090198 date "1997-11-01" @default.
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- W2140090198 title "Structure and function of the human chromosome 15 imprinting center" @default.
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- W2140090198 doi "https://doi.org/10.1002/(sici)1097-4652(199711)173:2<237::aid-jcp28>3.0.co;2-b" @default.
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