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Case Reports
. 1986 May;29(5):449-52.
doi: 10.1111/j.1399-0004.1986.tb00520.x.

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

M Schwartz, E Christensen, N C Christensen, F Skovby, K E Davies, J M Old
Case Reports

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

M Schwartz et al. 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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