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Patterson EE Minor KM Tchernatynskaia AV Taylor SM Shelton GD Ekenstedt KJ Mickelson JR 《Nature genetics》2008,40(10):1235-1239
Labrador retrievers are the most common dog breed in the world, with over 200,000 new kennel club registrations per year. The syndrome of exercise-induced collapse (EIC) in this breed is manifested by muscle weakness, incoordination and life-threatening collapse after intense exercise. Using a genome-wide microsatellite marker scan for linkage in pedigrees, we mapped the EIC locus to canine chromosome 9. We then used SNP association and haplotype analysis to fine map the locus, and identified a mutation in the dynamin 1 gene (DNM1) that causes an R256L substitution in a highly conserved region of the protein. This first documented mammalian DNM1 mutation is present at a high frequency in the breed and is a compelling candidate causal mutation for EIC, as the dynamin 1 protein has an essential role in neurotransmission and synaptic vesicle endocytosis. 相似文献
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Alexander V. Kolobov a) onleavefromA .F .IoffePhysico TechnicalInstitute StPetersburg Russia 《中国科学技术大学学报》2001,31(3):282-288
Thelatticemismatchbetweenthesubstrateandtheovergrownlayerallowstheformationofself as sembledquantumdots (QDs)throughtheStranski Krastanovmechanism[1,2 ] .Thistechniquehasbeensuccessfullyappliedtovarioussemiconductorsystems,andinparticulartoGe/Siquantumdots(Q… 相似文献
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