Percent transferrin saturation in segregating hemochromatosis.
作者信息
Borecki I B, Rao D C, Yaouanq J, Lalouel J M
机构信息
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110.
出版信息
Am J Med Genet. 1990 Jul;36(3):301-5. doi: 10.1002/ajmg.1320360311.
PMID:2363427
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.
摘要
相似文献
1
Percent transferrin saturation in segregating hemochromatosis.
Am J Med Genet. 1990 Jul;36(3):301-5. doi: 10.1002/ajmg.1320360311.
2
3
Hereditary hemochromatosis. Phenotypic expression of the disease.
N Engl J Med. 1979 Jul 26;301(4):175-9. doi: 10.1056/NEJM197907263010402.
4
Genetic and phenotypic expression of hemochromatosis in Canadians.
Clin Invest Med. 1983;6(3):171-9.
5
Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests.
Gastroenterology. 1984 Sep;87(3):628-33.
6
The role of transferrin saturation as a screening test for hereditary haemochromatosis in an Irish population seeking medical care.
Ann Clin Biochem. 2003 Mar;40(Pt 2):169-74. doi: 10.1258/000456303763046111.
7
Diagnostic efficacy of screening tests for hereditary hemochromatosis.
Can Med Assoc J. 1984 Oct 15;131(8):895-901.
8
Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis.
Gastroenterology. 1998 Mar;114(3):543-9. doi: 10.1016/s0016-5085(98)70538-4.
9
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
Ann Hematol. 2009 Aug;88(8):775-84. doi: 10.1007/s00277-008-0679-1. Epub 2009 Jan 22.
10
Hereditary haemochromatosis.
Clin Haematol. 1982 Jun;11(2):411-35.
引用本文的文献
1
46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis.
J Med Genet. 1997 Jan;34(1):24-7. doi: 10.1136/jmg.34.1.24.
Zotero 插件