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 ...
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- Publication status:
- Published
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- Publisher copy:
- 10.1159/000184724
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Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:34648
- UUID:
-
uuid:f6ead341-3a40-4972-b567-b2215c6c7b17
- Local pid:
- pubs:34648
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2008
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