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Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2004-07, Vol.128A (1), p.95-97
Main Authors:	Eng, Barry, Heshka, Tim, Tarnopolsky, Mark A., Nakamura, Lisa M., Nowaczyk, Małgorzata J.M., Waye, John S.
Format:	Article
Language:	English
Subjects:	Base Sequence Cerebroside-Sulfatase - genetics DNA Mutational Analysis Female Gene Deletion Humans Infant Leukodystrophy, Metachromatic - genetics Molecular Sequence Data
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