Percent transferrin saturation in segregating hemochromatosis

I. B. Borecki; D. C. Rao; J. Yaouanq; J. M. Lalouel

doi:10.1002/ajmg.1320360311

Percent transferrin saturation in segregating hemochromatosis

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

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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.

Original language	English
Pages (from-to)	301-305
Number of pages	5
Journal	American journal of medical genetics
Volume	36
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320360311
State	Published - 1990

Keywords

disease marker
heterozygote expression

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10.1002/ajmg.1320360311

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title = "Percent transferrin saturation in segregating hemochromatosis",

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.",

keywords = "disease marker, heterozygote expression",

author = "Borecki, {I. B.} and Rao, {D. C.} and J. Yaouanq and Lalouel, {J. M.}",

year = "1990",

doi = "10.1002/ajmg.1320360311",

language = "English",

volume = "36",

pages = "301--305",

journal = "American journal of medical genetics",

issn = "0148-7299",

number = "3",

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T1 - Percent transferrin saturation in segregating hemochromatosis

AU - Borecki, I. B.

AU - Rao, D. C.

AU - Yaouanq, J.

AU - Lalouel, J. M.

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

KW - disease marker

KW - heterozygote expression

UR - http://www.scopus.com/inward/record.url?scp=0025303579&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320360311

DO - 10.1002/ajmg.1320360311

M3 - Article

C2 - 2363427

AN - SCOPUS:0025303579

SN - 0148-7299

VL - 36

SP - 301

EP - 305

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 3

ER -

Percent transferrin saturation in segregating hemochromatosis

Abstract

Keywords

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