Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Stam, Anine H, Kothari, Parul H, Shaikh, Aisha, Gschwendter, Andreas, Jen, Joanna C, Hodgkinson, Suzanne, Hardy, Todd A, Hayes, Michael, Kempster, Peter A, Kotschet, Katya E, Bajema, Ingeborg M, van Duinen, Sjoerd G, Maat-Schieman, Marion L C, de Jong, Paulus T V M, de Smet, Marc D, de Wolff-Rouendaal, Didi, Dijkman, Greet, Pelzer, Nadine, Kolar, Grant R, Schmidt, Robert E, Lacey, JoAnne, Joseph, Daniel, Fintak, David R, Grand, M Gilbert, Brunt, Elizabeth M, Liapis, Helen, Hajj-Ali, Rula A, Kruit, Mark C, van Buchem, Mark A, Dichgans, Martin, Frants, Rune R, van den Maagdenberg, Arn M J M, Haan, Joost, Baloh, Robert W, Atkinson, John P, Terwindt, Gisela M, Ferrari, Michel D
Published in Brain (London, England : 1878) (01.11.2016)
Published in Brain (London, England : 1878) (01.11.2016)
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C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Atkinson, John P, Richards, Anna, van den Maagdenberg, Arn M J M, Jen, Joanna C, Kavanagh, David, Bertram, Paula, Spitzer, Dirk, Liszewski, M Kathryn, Barilla-LaBarca, Maria-Louise, Terwindt, Gisela M, Kasai, Yumi, McLellan, Mike, Grand, Mark Gilbert, Vanmolkot, Kaate R J, de Vries, Boukje, Wan, Jijun, Kane, Michael J, Mamsa, Hafsa, Schäfer, Ruth, Stam, Anine H, Haan, Joost, de Jong, Paulus T V M, Storimans, Caroline W, van Schooneveld, Mary J, Oosterhuis, Jendo A, Gschwendter, Andreas, Dichgans, Martin, Kotschet, Katya E, Hodgkinson, Suzanne, Hardy, Todd A, Delatycki, Martin B, Hajj-Ali, Rula A, Kothari, Parul H, Nelson, Stanley F, Frants, Rune R, Baloh, Robert W, Ferrari, Michel D
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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