A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect. [electronic resource]
Producer: 20150622Description: 830-7 p. digitalISSN:- 1862-1783
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Exome -- genetics
- Female
- Heart Defects, Congenital -- genetics
- Heart Septal Defects, Atrial -- genetics
- Humans
- Infant
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Sequence Homology, Amino Acid
- T-Box Domain Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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