Heterozygote detection in MLD. Allelic mutations at the ARA locus
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00293061.pdf
Reference44 articles.
1. Bass NH, Witmer EJ, Dreifuss FE (1970) A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state. Neurology 20:52?62
2. Bailey JL (1967) Miscellaneous analytical methods. In: Techniques in protein chemistry. Elsevier, Amsterdam, pp 340?352
3. Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulfatase A and B in human urine. Clin Chim Acta 4:453?455
4. Beratis NG, Danesino C, Hirschhorn K (1975) Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines of peripheral leukocytes. Ann Hum Genet 38: 485?493
5. Christomanou H, Sandhoff K (1978) Variation of arylsulfatase A: Comparative studies of arylsulfatase A with synthetic and natural substrates in three families with metachromatic leukodystrophy. Neuropediatrie 9:385?395
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