Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 21

Results: 15
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    Understanding human disease mutationsthrough the use of interspecific genetic variation.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 21, p. 2319, doi. 10.1093/hmg/10.21.2319
    By:
    • Miller, Mark P.;
    • KumarTowhom correspondence should be addressed. Tel: +1 480 7276949; Fax: +1 480 965 2519; Email: s.kumar@asu.eduPresentaddress:Mark P. Miller, Department of Fisheries and Wildlife, UtahState University, Logan, UT 84322-5210, USA, Sudhir
    Publication type:
    Article
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    Missense mutations in COL8A2,the gene encoding the α2 chain of typeVIII collagen, cause two forms of corneal endothelial dystrophy.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 21, p. 2415, doi. 10.1093/hmg/10.21.2415
    By:
    • Biswas, Susmito;
    • Munier, FrancisL.;
    • Yardley, Jill;
    • Hart-Holden, Niki;
    • Perveen, Rahat;
    • Cousin, Pascal;
    • Sutphin, John E.;
    • Noble, Bruce;
    • Batterbury, Mark;
    • Kielty, Cay;
    • Hackett, Anna;
    • Bonshek, Richard;
    • Ridgway, Alan;
    • McLeod, David;
    • Sheffield, Val C.;
    • Stone, Edwin M.;
    • Schorderet, DanielF.;
    • Black, GraemeC. M.
    Publication type:
    Article
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    Comparison of Pkd1-targetedmutants reveals that loss of polycystin-1 causes cystogenesis andbone defects.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 21, p. 2385
    By:
    • Lu, Weining;
    • Shen, Xiaohua;
    • Pavlova, Anna;
    • Lakkis, Montaha;
    • Ward, ChristopherJ.;
    • Pritchard, Lynn;
    • Harris, PeterC.;
    • Genest, DavidR.;
    • Perez-Atayde, AntonioR.;
    • ZhouTowhom correspondence ahould be addressed at: Harvard Institutes ofMedicine, Room 522, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.Tel: +1 617 525 5860; Fax: +1 617 525 5861; Email:zhou@rics.bwh.harvard.eduPresent address:Weining Lu, ..., Jing
    Publication type:
    Article
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    Oligomerization of polyalanineexpanded PABPN1 facilitates nuclear protein aggregation that is associatedwith cell death.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 21, p. 2341, doi. 10.1093/hmg/10.21.2341
    By:
    • Fan, Xueping;
    • Dion, Patrick;
    • Laganiere, Janet;
    • Brais, Bernard;
    • RouleauTowhom correspondence should be addressed at: Room L7-224, MontrealGeneral Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada.Tel: +1 514 934 8094; Fax: +1 514 934 8265; Email:mi32@musica.mcgill.ca, Guy A.
    Publication type:
    Article
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