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» A novel single nucleotide splice site mutation in FHL1 co...
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
Publikation: Konferencebidrag › Poster › Forskning
- Anja Pen
, - Mette Nyegaard
- Mingyan Fang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., Kina
- Hui Jiang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., Kina
- Rikke Christensen
- Henning Mølgaard
- Henning Andersen, Danmark
- Benedicte Parm Ulhøi, Danmark
- John Rosendahl Østergaard
- Signe Væth
- Mette Sommerlund
- Arjan P.M. de Brouwer, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Holland
- Xuiqing Zhang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., Kina
- Uffe Birk Jensen
| Originalsprog | Engelsk |
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| Udgivelsesår | 6 jun. 2015 |
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| Status | Udgivet - 6 jun. 2015 |
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| Begivenhed | ESHG 2015: European Society of Human Genetics - Glasgow, Storbritannien
Varighed: 6 jun. 2015 → 9 jul. 2015 |
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| Konference | ESHG 2015 |
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| Land | Storbritannien |
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| By | Glasgow |
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| Periode | 06/06/2015 → 09/07/2015 |
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Citationsformater
ID: 95197676