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Glyoxalase I “null” allele in a new family: Identification by abnormal segregation pattern and quantitative assay

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Summary

A GLO-I “null” allele in a family was indicated by an abnormal segregation pattern and by half normal red cell enzyme activity in carriers. This is the third reported instance of this uncommon allele, and the first with confirmation by quantitation of enzyme activity.

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Authors and Affiliations

  1. Division of Medical Genetics, UCLA School of Medicine, 90024, CA, Los Angeles, USA

    R. S. Sparkes, Maryellen C. Sparkes & Michol Crist

  2. Department of Medicine, Pediatrics, UCLA School of Medicine, 90024, Los Angeles, CA, USA

    R. S. Sparkes, Maryellen C. Sparkes & Michol Crist

  3. Department of Psychiatry, UCLA School of Medicine, 90024, Los Angeles, CA, USA

    R. S. Sparkes, Maryellen C. Sparkes & Michol Crist

  4. Center for the Health Sciences, 90024, Los Angeles, CA, USA

    R. S. Sparkes, Maryellen C. Sparkes & Michol Crist

  5. Division of Developmental Disabilities and Clinical Genetics, Department of Pediatrics, University of California at Irvine, Irvine, CA, USA

    Carol E. Anderson

Authors
  1. R. S. Sparkes
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  2. Maryellen C. Sparkes
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  3. Michol Crist
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  4. Carol E. Anderson
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Additional information

Supported in part by NIH grants MCH-927, Hd-04612, AM 25834, and Training Grant CGM 57320714

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Sparkes, R.S., Sparkes, M.C., Crist, M. et al. Glyoxalase I “null” allele in a new family: Identification by abnormal segregation pattern and quantitative assay. Hum Genet 64, 146–147 (1983). https://doi.org/10.1007/BF00327112

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  • DOI: https://doi.org/10.1007/BF00327112

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