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

Authors :: Wenger DA
Luzi P
Rafi MA
Source :: Molecular genetics and metabolism [Mol Genet Metab] 2014 Mar; Vol. 111 (3), pp. 307-308. Date of Electronic Publication: 2013 Dec 19.
Publication Year :: 2014

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

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