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Case Reports
. 1982;60(3):212-3.
doi: 10.1007/BF00303004.

Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

H de Verneuil, N Phung, Y Nordmann, D Allard, F Leprince, H Jérome, A Aurias, M O Rethoré
Case Reports

Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

H de Verneuil et al. Hum Genet. 1982.

Abstract

Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To evaluate further this assignment we have children with a trisomy of the region 11qter. We confirm the results of Meisler et al. (1980) and demonstrate that uroporphyrinogen I synthase activity is increased by a factor of 1.5 in trisomy 11qter. In erythrocytes of one child with a trisomy 11p, the expression of this enzyme was normal.

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References

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