title: Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
authors.affiliation: Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA. Electronic address: david.wenger@jefferson.edu.
authors.forename: David A
authors.initials: DA
authors.lastname: Wenger
authors.affiliation: Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA.
authors.forename: Paola
authors.initials: P
authors.lastname: Luzi
authors.affiliation: Department of Neurology, Jefferson Medical College, 1020 Locust St., Room346, Philadelphia, PA 19107, USA.
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Rafi
mesh_terms: D005698:Galactosylceramidase / Q000172:deficiency / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D005698:Galactosylceramidase
keywords: Expression studies; Galactocerebrosidase (GALC); Krabbe disease; Mutations; Newborn screening; Polymorphisms