Case Reports
doi: 10.1111/j.1399-0004.1986.tb00520.x.
Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis
- PMID: 3017613
- DOI: 10.1111/j.1399-0004.1986.tb00520.x
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Case Reports
Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis
Clin Genet.
1986 May.
Abstract
By examining a restriction fragment length polymorphism (RFLP) detected by a gene specific DNA probe of ornithine transcarbamylase (OTC), we have been able to follow the segregation of the defective gene in a family with OTC deficiency. We have identified three sisters of the proband as carriers, and excluded a fourth as a carrier.
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