Mutations in Hnrnpa1 cause congenital heart defects
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چکیده
منابع مشابه
Mutations in Hnrnpa1 cause congenital heart defects
Incomplete penetrance of congenital heart defects (CHDs) was observed in a mouse model. We hypothesized that the contribution of a major genetic locus modulates the manifestation of the CHDs. After genome-wide linkage mapping, fine mapping, and high-throughput targeted sequencing, a recessive frameshift mutation of the heterogeneous nuclear ribonucleoprotein A1 (Hnrnpa1) gene was confirmed (Hnr...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2018
ISSN: 2379-3708
DOI: 10.1172/jci.insight.98555