Title : Carbonic anhydrase - related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice
نویسندگان
چکیده
Departments of Orthopaedic SurgeryCampbell Clinic and Pathology, University of Tennessee Health Science Center, Memphis, Tennessee; Department of Biology, University of Memphis, Memphis, Tennessee; Departments of Neurology and Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee; The Jackson Laboratory, Bar Harbor, Maine; Functional Genomics Facility, University of Chicago, Chicago, Illinois; Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma
منابع مشابه
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or the peripheral nervous systems. A 19-bp deletion in exon 8 of the carbonic anhydrase-related protein VIII gene (Car8) was detected by high-throughput temperature-gradient capillary electrophoresis heteroduplex analysis of PCR amplicons of ge...
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We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified a 5.8 Mb interval on chromosome 8q with shared homozygosity among the affected persons. Sequencing of genes contained in the interval revealed a homozygous mutation, S100P, in carbonic anhydrase related ...
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