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Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy

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Summary

A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.

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References

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Authors and Affiliations

  1. Center for Human Genetics and Departments of Pediatrics and Microbiology, Boston University School of Medicine, 02118, Boston, MA, USA

    James Skare & Aubrey Milunsky

  2. Arthritis Center and Department of Medicine, Boston University School of Medicine, 02118, Boston, MA, USA

    Alan Cohen & Martha Skinner

  3. Division of Rheumatology, Cerrahpasa Medical Faculty, Istanbul, Turkey

    Hasan Yazici & Hulya Dede

  4. Department of Medicine, Cukurova University, Adana, Turkey

    Eren Erken

Authors
  1. James Skare
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  2. Hasan Yazici
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  3. Eren Erken
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  4. Hulya Dede
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  5. Alan Cohen
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  6. Aubrey Milunsky
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  7. Martha Skinner
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Skare, J., Yazici, H., Erken, E. et al. Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet 86, 89–90 (1990). https://doi.org/10.1007/BF00205182

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  • DOI: https://doi.org/10.1007/BF00205182

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