Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

Mol Genet Metab. 2014 Mar;111(3):307-308. doi: 10.1016/j.ymgme.2013.12.009. Epub 2013 Dec 19.

Authors

David A Wenger¹, Paola Luzi², Mohammad A Rafi²

Affiliations

¹ Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA. Electronic address: david.wenger@jefferson.edu.
² Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA.

PMID: 24388568
DOI: 10.1016/j.ymgme.2013.12.009

No abstract available

Keywords: Expression studies; Galactocerebrosidase (GALC); Krabbe disease; Mutations; Newborn screening; Polymorphisms.

MeSH terms

Galactosylceramidase / deficiency
Galactosylceramidase / genetics*
Genetic Testing
Humans
Infant, Newborn
Leukodystrophy, Globoid Cell / enzymology
Leukodystrophy, Globoid Cell / genetics*
Leukodystrophy, Globoid Cell / pathology
Mutation / genetics*
Polymorphism, Genetic

Substances

Galactosylceramidase