Information

NIPBL

The NIPBL gene codes for a protein which is part of the regulatory centre of cohesin and, along with another gene (MAU2) helps the ring to be loaded onto the duplicated DNA. Changes (mutations) in NIPBL can be found in approximately 70% of individuals with CdLS. 

Classic CdLS is usually caused by changes in NIPBL.


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Find other pages that share the same topic as this page Self-injurious and aggressive behaviour26 Self-injurious and aggressive behaviour2 Self-injurious and aggressive behaviour14 Executive Function2 Executive Function1 Puberty5 Puberty7 Adaptive behaviour in CdLS5 Adaptive behaviour in CdLS1 Adaptive behaviour in CdLS5 Age-related changes in cognition and behaviour10 Age-related changes in cognition and behaviour6
Source:

CdLS Outreach UK & Ireland S1, published on 1 May 2011

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              

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Moleculair diagnostic criteria
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