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Elastin Mutation Screening in a Group of Patients Affected by Vascular Abnormalities

✍ Scribed by L. Rodriguez-Revenga; C. Badenas; A. Carrió; M. Milà


Publisher
Springer
Year
2005
Tongue
English
Weight
181 KB
Volume
26
Category
Article
ISSN
0172-0643

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The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutat