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Transthyretin Glu54Leu - an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type. [electronic resource] by
- Hellman, Urban
- Lång, Kenneth
- Ihse, Elisabet
- Jonasson, Jenni
- Olsson, Malin
- Lundgren, Hans-Erik
- Pilebro, Björn
- Westermark, Per
- Wixner, Jonas
- Anan, Intissar
Producer: 20200619
In:
Scandinavian journal of clinical and laboratory investigation vol. 79
Availability: No items available.
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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. [electronic resource] by
- Stattin, Eva-Lena
- Boström, Ida Maria
- Winbo, Annika
- Cederquist, Kristina
- Jonasson, Jenni
- Jonsson, Björn-Anders
- Diamant, Ulla-Britt
- Jensen, Steen M
- Rydberg, Annika
- Norberg, Anna
Producer: 20130726
In:
BMC cardiovascular disorders vol. 12
Availability: No items available.
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Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. [electronic resource] by
- Suhr, Ole B
- Andersen, Oluf
- Aronsson, Thomas
- Jonasson, Jenni
- Kalimo, Hannu
- Lundahl, Christer
- Lundgren, Hans-Eric
- Melberg, Atle
- Nyberg, Johan
- Olsson, Malin
- Sandberg, Arne
- Westermark, Per
Producer: 20101208
In:
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis vol. 16
Availability: No items available.
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EMQN Best Practice Guidelines for molecular genetic testing of SCAs. [electronic resource] by
- Sequeiros, Jorge
- Martindale, Joanne
- Seneca, Sara
- Giunti, Paola
- Kämäräinen, Outi
- Volpini, Victor
- Weirich, Helga
- Christodoulou, Kyproula
- Bazak, Nazli
- Sinke, Richard
- Sulek-Piatkowska, Anna
- Garcia-Planells, Javier
- Davis, Mark
- Frontali, Marina
- Hämäläinen, Petra
- Wieczorek, Stefan
- Zühlke, Christine
- Saraiva-Pereira, Maria-Luiza
- Warner, Jon
- Leguern, Eric
- Thonney, Francine
- Quintáns Castro, Beatriz
- Jonasson, Jenni
- Storm, Katrien
- Andersson, Anna
- Ravani, Anna
- Correia, Luís
- Silveira, Isabel
- Alonso, Isabel
- Martins, Carla
- Pinto Basto, Jorge
- Coutinho, Paula
- Perdigão, Andreia
- Barton, David
- Davis, Mary
Producer: 20110302
In:
European journal of human genetics : EJHG vol. 18
Availability: No items available.
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