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 hum...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Cells, Cultured
- Chlorocebus aethiops
- DNA Mutational Analysis
- DNA, Complementary
- Fibroblasts
- Gene Frequency
- Genetic Testing
- Glucuronidase
- Humans