Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect
The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.
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| Veröffentlicht in: | Genetics in Medicine 2016-02, Vol.18 (2), p.189-98 |
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| container_title | Genetics in Medicine |
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| creator | D'Alessandro, Lisa C.A Al Turki, Saeed Manickaraj, Ashok Kumar Manase, Dorin Mulder, Barbara J.M Bergin, Lynn Rosenberg, Herschel C Mondal, Tapas Gordon, Elaine Lougheed, Jane Smythe, John Devriendt, Koenraad Bhattacharya, Shoumo Watkins, Hugh Bentham, Jamie Bowdin, Sarah Hurles, Matthew E Mital, Seema |
| description | The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD. |
| format | Article |
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| language | eng |
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| source | Lirias (KU Leuven Association); EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| title | Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
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