Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are caused by the loss of function of imprinted genes in proximal 15q. In approximately 2%-4% of patients, this loss of function is due to an imprinting defect. In some cases, the imprinting defect is the result of a parental imprint-swi...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Buiting, K, Dittrich, B, Gross, S, Lich, C, Färber, C, Buchholz, T, Smith, E, Reis, A, Bürger, J, Nöthen, M M, Barth-Witte, U, Janssen, B, Abeliovich, D, Lerer, I, van den Ouweland, A M, Halley, D J, Schrander-Stumpel, C, Smeets, H, Meinecke, P, Malcolm, S, Gardner, A, Lalande, M, Nicholls, R D, Friend, K, Schulze, A, Matthijs, G, Kokkonen, H, Hilbert, P, Van Maldergem, L, Glover, G, Carbonell, P, Willems, P, Gillessen-Kaesbach, G, Horsthemke, B
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1998
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377255/
https://ncbi.nlm.nih.gov/pubmed/9634532
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