Journal article icon

Journal article

Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.

Abstract:

Copy Number Variants (CNV) and other submicroscopic structural changes are now recognised to be widespread across the human genome. We show that SNP data generated for association study can be utilised for the identification of deletion CNVs. During analysis of data for an SNP association study for Specific Language Impairment (SLI) a deletion was identified. SLI adversely affects the language development of children in the absence of any obvious cause. Previous studies have found linkage to ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1159/000184724

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
Journal:
Cytogenetic and genome research
Volume:
123
Issue:
1-4
Pages:
322-332
Publication date:
2008-01-01
DOI:
EISSN:
1424-859X
ISSN:
1424-8581
URN:
uuid:f6ead341-3a40-4972-b567-b2215c6c7b17
Source identifiers:
34648
Local pid:
pubs:34648

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP