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Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena.

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Presentation on theme: "Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena."— Presentation transcript:

1 Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena Bochukova, Eimear Dunne, Susan M. Huson, John Elston, Mohammed A. Hannan, Matthew Jackson, Cyril J. Chapman, A. Malcolm R. Taylor  The American Journal of Human Genetics  Volume 67, Issue 5, Pages (November 2000) DOI: /S (07) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree with AOA, showing haplotypes along 9q34. Boxes around haplotypes indicate regions of homozygosity by descent in affected individuals. Arrows indicate meiotic recombination events. The American Journal of Human Genetics  , DOI: ( /S (07) ) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Expression of ATM, hRad50, Nbs1, and hMRE11 in patient II:5.
The American Journal of Human Genetics  , DOI: ( /S (07) ) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Multipoint location score in family with AOA
The American Journal of Human Genetics  , DOI: ( /S (07) ) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Ideogram of 9q34, illustrating the location of markers, approximate genetic distances, and overlap between the AOA locus and the Joubert syndrome locus. The American Journal of Human Genetics  , DOI: ( /S (07) ) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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