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Article

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

American journal of human genetics - 1 Mar 1996

Vervoort R, Islam M R, Sly W S, Zabot M T, Kleijer W J, Chabas A, Fensom A, Young E P, Liebaers I, Lissens W

Abstract excerpt

Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of presentation of this mucopolysaccharidosis. We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease. Mutations resulting in an...

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PMID: 8644704
PMCID: PMC1914559

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