Literature DB >> 2363427

Percent transferrin saturation in segregating hemochromatosis.

I B Borecki1, D C Rao, J Yaouanq, J M Lalouel.   

Abstract

The segregation of genetic hemochromatosis was analyzed by using percent transferrin saturation (TS) as a phenotypic marker of the disease. Homozygotes for the disease were readily discernable with the added information provided by the quantitative indicator. However, there was no evidence of partial expression of TS abnormalities in heterozygotes, contrary to previous studies.

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Year:  1990        PMID: 2363427     DOI: 10.1002/ajmg.1320360311

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis.

Authors:  C P Venditti; N K Seese; G S Gerhard; A E Ten Elshof; K A Chorney; P N Mowrey; P G Lacey; J H Knoll; M J Chorney
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

  1 in total

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