ORNITHINE TRANSCARBAMYLASE DEFICIENCY RESULTING FROM A C-TO-T SUBSTITUTION IN EXON-5 OF THE ORNITHINE TRANSCARBAMYLASE GENE
- 1 July 1989
- journal article
- research article
- Vol. 45 (1) , 123-127
Abstract
To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C.2.1.3.3) gene of a female patient with mild OTC deficiency, we used a combination of genomic amplification followed by direct sequencing and oligodeoxyribonucleotide hybridization. We obtained evidence for a C-to-T substitution in exon 5 (codon 141) of this gene. This mutation generates a stop codon, in place of Arg, at amino acid 109 of the mature OTC protein. The mutation arose, de novo, in a germ cell of one of the parents.This publication has 22 references indexed in Scilit:
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