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US 9,447,391 B2Granted
Diagnostic tests for the detection of inherited peripheral neuropathies
AssigneesVib Vzw, Universiteit Antwerpen
InventorsAlbena Jordanova, Magdalena Zimon, Jonathan Baets, Peter De Jonghe
Life of this patent
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Abstract
The disclosure relates to the field of human genetics, particularly the field of peripheral neuropathy, particularly inherited peripheral neuropathy. Specifically, the disclosure relates to methods and materials to detect hereditary peripheral neuropathy, more particularly autosomal recessive Charcot-Marie-Tooth disease.
Claims4
An isolated cDNA encoding a mutant histidine triad nucleotide-binding protein 1 (HINT1) polypeptide, the HINT1 polypeptide comprising SEQ ID NO:
- 2 comprising mutation Arg37Pro.
Dependencies are inferred from the claim text.