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  Call for patients - chromosome rearrangements in congenital heart defects

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Author Topic:   Call for patients - chromosome rearrangements in congenital heart defects
posted 06-06-2006 03:31 PM     Click Here to See the Profile for lalarsen   Click Here to Email lalarsen     Edit/Delete Message Reply w/Quote
Call for patients.

Congenital heart defects (CHD) affect nearly 1% of the population but only few genes involved in human CHD are known. Mapping of breakpoints in disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes and may be used as a shortcut for detection of novel genes involved in CHD.

In an effort to identify genes associated with CHD we have started a systematic mapping of breakpoints in translocation and inversion carriers with CHD as a part of the clinical spectrum.

In order to extend this study we would like to collaborate with laboratories or clinical professionals with access to samples from DBCR patients. We are especially interested in investigating de-novo cases. We are open for any type of collaboration.

Contact person:

Lars Allan Larsen, M.Sc., Ph.D.
Associate professor
Wilhelm Johannsen Centre for Functional Genome Research
Department of Medical Biochemistry and Genetics

University of Copenhagen
Blegdamsvej 3
DK-2200 Copenhagen
TEL: +45 35 32 78 27 / +45 35 32 78 20
FAX: +45 35 32 78 45
E-mail: lal@imbg.ku.dk
webpage: www.wjc.ku.dk


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