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How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

✍ Scribed by S. Grünewald; L. Fairbanks; S. Genet; T. Cranston; J. Hüsing; J. V. Leonard; M. P. Champion


Book ID
111574722
Publisher
Springer
Year
2004
Tongue
English
Weight
102 KB
Volume
27
Category
Article
ISSN
0141-8955

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DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th