C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy by 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, Atkinson John P in Nature genetics (2007).

[PMID: 17660820] PubMed

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