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Journal article

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.

Abstract:

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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Journal:
Journal of cardiovascular medicine (Hagerstown, Md.)
Volume:
14
Issue:
8
Pages:
582-586
Publication date:
2013-08-01
DOI:
EISSN:
1558-2035
ISSN:
1558-2027
Source identifiers:
350525

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