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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 ...

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Publication status:
Published

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Publisher copy:
10.1159/000184724

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
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
Source identifiers:
34648
Language:
English
Keywords:
Pubs id:
pubs:34648
UUID:
uuid:f6ead341-3a40-4972-b567-b2215c6c7b17
Local pid:
pubs:34648
Deposit date:
2012-12-19

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