C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
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| Title: | C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. |
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| Authors: | Richards A; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP |
| Source: | Nature genetics [Nat Genet] 2007 Sep; Vol. 39 (9), pp. 1068-70. Date of Electronic Publication: 2007 Jul 29. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 17660820 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/ng2082 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1068 Titles: – TitleFull: C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Richards A – PersonEntity: Name: NameFull: van den Maagdenberg AM – PersonEntity: Name: NameFull: Jen JC – PersonEntity: Name: NameFull: Kavanagh D – PersonEntity: Name: NameFull: Bertram P – PersonEntity: Name: NameFull: Spitzer D – PersonEntity: Name: NameFull: Liszewski MK – PersonEntity: Name: NameFull: Barilla-Labarca ML – PersonEntity: Name: NameFull: Terwindt GM – PersonEntity: Name: NameFull: Kasai Y – PersonEntity: Name: NameFull: McLellan M – PersonEntity: Name: NameFull: Grand MG – PersonEntity: Name: NameFull: Vanmolkot KR – PersonEntity: Name: NameFull: de Vries B – PersonEntity: Name: NameFull: Wan J – PersonEntity: Name: NameFull: Kane MJ – PersonEntity: Name: NameFull: Mamsa H – PersonEntity: Name: NameFull: Schäfer R – PersonEntity: Name: NameFull: Stam AH – PersonEntity: Name: NameFull: Haan J – PersonEntity: Name: NameFull: de Jong PT – PersonEntity: Name: NameFull: Storimans CW – PersonEntity: Name: NameFull: van Schooneveld MJ – PersonEntity: Name: NameFull: Oosterhuis JA – PersonEntity: Name: NameFull: Gschwendter A – PersonEntity: Name: NameFull: Dichgans M – PersonEntity: Name: NameFull: Kotschet KE – PersonEntity: Name: NameFull: Hodgkinson S – PersonEntity: Name: NameFull: Hardy TA – PersonEntity: Name: NameFull: Delatycki MB – PersonEntity: Name: NameFull: Hajj-Ali RA – PersonEntity: Name: NameFull: Kothari PH – PersonEntity: Name: NameFull: Nelson SF – PersonEntity: Name: NameFull: Frants RR – PersonEntity: Name: NameFull: Baloh RW – PersonEntity: Name: NameFull: Ferrari MD – PersonEntity: Name: NameFull: Atkinson JP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2007 Sep Type: published Y: 2007 Identifiers: – Type: issn-print Value: 1061-4036 Numbering: – Type: volume Value: 39 – Type: issue Value: 9 Titles: – TitleFull: Nature genetics Type: main |
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