Journal article
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
- Abstract:
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AIMS: Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) in human beings. The present study aimed to assess the prevalence of NKX2.5 mutations in Italian patients with sporadic non-syndromic and syndromic CHD, as well as to appraise any genotype-phenotype correlations. METHODS: One hundred Italian patients affected with CHD (90 had sporadic non-syndromic CHD and 10 had syndromic CHD) were screened for NKX2.5 mutations. The c...
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- Publication status:
- Published
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- Publisher copy:
- 10.2459/jcm.0b013e328356a326
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Bibliographic Details
- Journal:
- Journal of cardiovascular medicine (Hagerstown, Md.)
- Volume:
- 14
- Issue:
- 8
- Pages:
- 582-586
- Publication date:
- 2013-08-01
- DOI:
- EISSN:
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1558-2035
- ISSN:
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1558-2027
- Source identifiers:
-
350525
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:350525
- UUID:
-
uuid:406de942-aec0-47f2-8dfe-2acdd27c7f0a
- Local pid:
- pubs:350525
- Deposit date:
- 2013-11-17
Terms of use
- Copyright date:
- 2013
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