Genomic imprinting and human hereditary disorders

Authors
Nemtsova, MV
Citation
Mv. Nemtsova, Genomic imprinting and human hereditary disorders, MOL BIOL, 34(4), 2000, pp. 554-560
Citations number
97
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR BIOLOGY
ISSN journal
00268933 → ACNP
Volume
34
Issue
4
Year of publication
2000
Pages
554 - 560
Database
ISI
SICI code
0026-8933(200007/08)34:4<554:GIAHHD>2.0.ZU;2-3
Abstract
Modern data are reviewed that concern hereditary disorders caused by abnorm al expression of imprinted genes rather than mutations and structural aberr ations. As an example, the molecular organization of the critical chromosom al region 15(q11.2-q13) and the possible pathogenetic mechanisms are descri bed in detail for Prader-Willi and Angelman syndromes.