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Figure 1 | BMC Medical Genetics

Figure 1

From: Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

Figure 1

Domain structure of the kalirin gene, isoform 2. Dbl-homology (DH) and pleckstrin homology (PH) domains are responsible for the GEF activity of kalirin. The C terminus contains a unique 20 amino acid sequence with a PDZ domain-binding motif (STYV) that is specific for isoform 2. The localization of all SNPs examined in this study and rs numbers and changes on the protein level are indicated.

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BMC Medical Genetics

ISSN: 1471-2350

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