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

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

Author information

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.

KEYWORDS:

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

PMID:
24388568
DOI:
10.1016/j.ymgme.2013.12.009
[Indexed for MEDLINE]

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