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Uhlenberg et al., 2004 - Google Patents

Mutations in the gene encoding gap junction protein α12 (connexin 46.6) cause Pelizaeus-Merzbacher–like disease

Uhlenberg et al., 2004

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Document ID
8428267221494678614
Author
Uhlenberg B
Schuelke M
Rüschendorf F
Ruf N
Kaindl A
Henneke M
Thiele H
Stoltenburg-Didinger G
Aksu F
Topaloğlu H
Nürnberg P
Hübner C
Weschke B
Gärtner J
Publication year
Publication venue
The American Journal of Human Genetics

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The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family with PMLD, we performed a genomewide …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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