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posted on 08.11.2019 by Sara Zagaglia, Christina Selch, Jelena Nisevic Radic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, Krithika S, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leao, Jutta Gartner, Andreas Merkenschlanger, Michaela Jaksch, Rikke S. Moller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M Subramanian, Pasquale Striano, Rhys Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Josef Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay Sisodiya
Figure 5. Family pedigrees from published cases. Fig.5a. COL4A2 c. 2399 G>A; p. G800E. Ref. Ha et al., 2016. Fig.5b. COL4A2 c. 3455 G>A; p. G1152D. Ref. Yoneda et al., 2012. Fig.5c. COL4A1 c. 1249G>C; p.G417R. Ref. Giorgio et al., 2015. Fig.5d. COL4A1 c.3796G>C; p.G1266R. Ref. Shah et al., 2012. Fig.5e: COL4A1 c.2662G>C; p.G888R. Ref. Giorgio et al., 2015. Fig.5f: COL4A1 p.G562E. Ref. Vahedi et al., 2003 and Vahedi et al., 2007. Fig.5g.: COL4A1 p. G749S. Ref. Gasparini et al., 2006. Fig.5h: COL4A1 c.3389G>A; p.G1130D. Ref. Breedved et al. 2006 Fig.5i: COL4A1 c.2159G>A. Ref. Tonduti et al., 2012. Fig.5j: COL4A1 c.3715G>A; p.G1239R. Ref. Takenouchi et al., 2015. Fig.5k: COL4A1 c. 2645G>A. Ref. Shah et al., 2012. Fig.5l: COL4A1 c.1973 G>A. Ref. Livingston et al., 2011. Fig.5m: COL4A1 c.4031G>C; p.G1344A. Ref. Leung et al., 2012. Fig.5n: COL4A2 c.3455G>A; p.G1152D. Ref. Yoneda et al., 2012. Fig.5o: COL4A1 c.2085del; p. G696fs. Ref. Lemmens et al., 2013. wt/m: wild-type/mutated.

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