Carrier detection in Sanfilippo A syndrome
| Autor: | D. A. Applegarth, J. R. Toone |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
medicine.medical_specialty
Obligate business.industry Hydrolases Sanfilippo A syndrome Genetic Carrier Screening Heterozygote advantage Heparan N-sulphatase Fibroblasts Mucopolysaccharidoses Sanfilippo syndrome type a Mucopolysaccharidosis III Endocrinology Internal medicine Genetics Leukocytes Medicine Humans business Mucopolysaccharidosis Type IIIA Normal control Genetics (clinical) |
| Zdroj: | Clinical genetics. 33(6) |
| ISSN: | 0009-9163 |
| Popis: | Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N-sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members gave decreased values and are presumed heterozygotes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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