Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
- 14 July 1999
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 85 (5) , 452-454
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.Journal of Medical Genetics, 1995
- Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyAmerican Journal of Medical Genetics, 1995
- Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiencyHuman Genetics, 1993
- Allopurinol-Induced OrotidinuriaNew England Journal of Medicine, 1990