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Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.

Journal of veterinary internal medicine | 2023

Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed-specific variants are reported.

Pubmed ID: 37593836 RIS Download

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Associated grants

  • Agency: James Harkness Fund,

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This is a list of tools and resources that we have found mentioned in this publication.


LAMP (tool)

RRID:SCR_001740

Software for linkage and association modeling in pedigrees that uses a maximum likelihood model to extract information on genetic linkage and association from samples of unrelated individuals, sib pairs, trios and larger pedigrees (Li et al, 2005; Li et al, 2006). It provides estimates of genetic model parameters and powerful tests of association in settings where population stratification is not a concern.

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Primer3 (tool)

RRID:SCR_003139

Tool used to design PCR primers from DNA sequence - often in high-throughput genomics applications. It does everything from mispriming libraries to sequence quality data to the generation of internal oligos.

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