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DNA analysis of ornithine transcarbamylase deficiency

โœ Scribed by U. Wendel; E. Wilichowski; J. Schmidtke; C. Bachmann


Publisher
Springer
Year
1988
Tongue
English
Weight
521 KB
Volume
147
Category
Article
ISSN
0340-6997

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Maternal gonadal mosaicism causing ornit
โœ Bowling, Francis; McGown, Ivan; McGill, James; Cowley, David; Tuchman, Mendel ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 13 KB ๐Ÿ‘ 2 views

Ornithine transcarbamylase (OTC) deficiency (McKusick 311250), an X-linked inherited disorder, often presents in males with severe neonatal onset of hyperammonemia. Maternal gonadal mosaicism in OTC deficiency was postulated previously, but no cases have been reported. We report on a family in which