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New mutations in two Dutch patients with early infantile galactosialidosis
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New mutations in two Dutch patients with early infantile galactosialidosis
New mutations in two Dutch patients with early infantile galactosialidosis
J Groener
J Groener
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1 March 2003
journal article
case report
Published by
Elsevier
in
Molecular Genetics and Metabolism
Vol. 78
(3)
,
222-228
https://doi.org/10.1016/s1096-7192(03)00005-2
Abstract
No abstract available
Keywords
FLUORIMETRIC ASSAY
GENE MUTATION
PLACENTA
PROTECTIVE PROTEIN/CATHEPSIN A
PPCA
GALACTOSIALIDOSIS
HYDROPS FETALIS
AUTOSOMAL RECESSIVE
GENOMIC DNA
MUTATION ANALYSIS
RNA ISOLATION
NUCLEOTIDES
MISSENSE MUTATION
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