Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice-Reference-Cited by-同舟云学术

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

Published:2002-08-26 Issue:1 Volume:32 Page:116-127
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hoogenraad Casper C.,Koekkoek Bas,Akhmanova Anna,Krugers Harm,Dortland Bjorn,Miedema Marja,van Alphen Arjan,Kistler Werner M.,Jaegle Martine,Koutsourakis Manoussos,Van Camp Nadja,Verhoye Marleen,van der Linden Annemie,Kaverina Irina,Grosveld Frank,De Zeeuw Chris I.,Galjart Niels

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng954.pdf

Reference49 articles.

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2. Bellugi, U., Lichtenberger, L., Mills, D., Galaburda, A. & Korenberg, J.R. Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends Neurosci. 22, 197–207 (1999).

3. Francke, U. Williams-Beuren syndrome: genes and mechanisms. Hum. Mol. Genet. 8, 1947–1954 (1999).

4. Osborne, L.R. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol. Genet. Metab. 67, 1–10 (1999).

5. Tassabehji, M. et al. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum. Mol. Genet. 6, 1029–1036 (1997).

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