Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

doi:10.1007/BF00209398

Back to search

Article

Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

Human genetics - 1 Feb 1995

García-Pérez M A, Sanjurjo P, Rubio V

Abstract excerpt

We have found in patients with ornithine transcarbamylase (OTC) deficiency from two Spanish families (A and B), replacement by A of G at the 3'-end of exon 4 of the OTC gene. The same mutation is found in the spf-ash mouse, a rodent model of mild OTC deficiency, causing a neutral R129H mutation a...

Topics

Adolescent
Animals
Base Sequence
Exons
Female
Humans
Male
Mice
Molecular Sequence Data
Mutation
Ornithine Carbamoyltransferase Deficiency Disease
Pedigree
Polymorphism, Single-Stranded Conformational
Spain

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.