ArticleJournal of medical genetics1993
Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 12 citations in OpenAlex.
- Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.Frontiers in molecular biosciences · 2021Article
- Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases.The EPMA journal · 2011Article
- Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA based and biochemical diagnosis of MPS II was performed on 13 unrelated families using Southern blotting. The 35S-sulphate accumulation in cultured fibroblasts was investigated and the iduronate-2-sulphatase (IDS) activity in the serum determined. Sixteen patients and 36 females at risk were screened for structural aberrations and by RFLP analysis using the intragenic probe pc2S15 and probes VK23B, VK21A, and II-10 for the flanking loci DXS297, DXS296, and DXS466. Structural alterations were found in the DNA of two patients. One of them showed a major deletion including the whole coding sequence of the IDS gene. An aberrant Southern fragment occurred in the HindIII/pc2S15 blot of the other patient suggesting a new HindIII restriction site by point mutation in an IDS gene intron. Twenty-nine females were confirmed as carriers, and for five women the heterozygous state could be excluded. Prenatal diagnosis can be offered to 27 women if requested.
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Registered trials
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