Alkaline phosphatase in cultured amniotic-fluid cells: Implications for prenatal diagnosis of hypophosphatasia
β Scribed by F. J. Vanneuville; J. G. Leroy; A. F. Van Elsen
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 216 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0141-8955
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Chediak-Higashi syndrome (CHS) is an auto-soma1 recessive disease in humans, cats, and 8 other species. The homology of CHS in humans and cats has been demonstrated. Since human CHS is a progressive, serious, and eventually fatal disease, a method for prenatal diagnosis would be desirable. This stud
Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non-specific alkaline phosphatase (TNSALP) gene is reliable and mostly informative. However, alkaline phosphatase (ALP) assay of CVS may be a useful complementary and independent method, especially when a mutation is un