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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Overview
status
publication date
- July 2004
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Base Sequence (MeSH)
- Cerebroside-Sulfatase (MeSH)
- DNA Mutational Analysis (MeSH)
- Female (MeSH)
- Gene Deletion (MeSH)
- Humans (MeSH)
- Infant (MeSH)
- Leukodystrophy, Metachromatic (MeSH)
- Molecular Sequence Data (MeSH)