Article
A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.
Human genetics - 1 Jan 1990
Bonaïti-Pellié C, Pelet A, Ogier H, Nelson J R, Largillière C, Berthelot J, Saudubray J M, Munnich A
Abstract excerpt
Ornithine transcarbamylase deficiency is an X-linked disease with possible manifestations in heterozygous females. Using segregation analysis in families from the literature pooled with a French series, the penetrance could be estimated to be 17% in heterozygous females (15% with severe and 2% with milder symptoms). Using these estimates, the proportion of sporadic cases among heterozygous females and hemizygous...
Topics
- Female
- Gene Frequency
- Genetic Linkage
- Heterozygote
- Humans
- Male
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- Sex Characteristics