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A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect which can arises from different genetic defects. The genetic heterogeneity of this disease leads to restricted success in candidate genes screening method. Emerging approaches such as next‐generation sequencing (NGS)‐based ge...

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Dades bibliogràfiques
Publicat a:J Clin Lab Anal
Autors principals: Kalayinia, Samira, Maleki, Majid, Mahdavi, Mohammad, Mahdieh, Nejat
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7171333/
https://ncbi.nlm.nih.gov/pubmed/31867804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23147
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