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First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

✍ Scribed by Joëlle Boué; Isabelle Oberle; Roland Heilig; Jean Louis Mandel; Ann Moser; H. Moser; J. W. Larsen; Y. Dumez; A. Boué


Publisher
Springer
Year
1985
Tongue
English
Weight
325 KB
Volume
69
Category
Article
ISSN
0340-6717

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The close genetic linkage between the gene for congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and HLA genes allowed us to use the polymorphism of this system as a marker of the disease. HLA genotyping can be performed by using restriction enzyme fragments hybridized with spe