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Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

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Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. / Nielsen, Peter; Carpinteiro, S; Fischer, R; Cabeda, J M; Porto, G; Gabbe, E E.

In: BRIT J HAEMATOL, Vol. 103, No. 3, 3, 1998, p. 842-845.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Nielsen, P, Carpinteiro, S, Fischer, R, Cabeda, JM, Porto, G & Gabbe, EE 1998, 'Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.', BRIT J HAEMATOL, vol. 103, no. 3, 3, pp. 842-845. <http://www.ncbi.nlm.nih.gov/pubmed/9858243?dopt=Citation>

APA

Nielsen, P., Carpinteiro, S., Fischer, R., Cabeda, J. M., Porto, G., & Gabbe, E. E. (1998). Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. BRIT J HAEMATOL, 103(3), 842-845. [3]. http://www.ncbi.nlm.nih.gov/pubmed/9858243?dopt=Citation

Vancouver

Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. BRIT J HAEMATOL. 1998;103(3):842-845. 3.

Bibtex

@article{7c3fd8c130e04f1ab1323e029ae3950f,
title = "Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.",
abstract = "Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload.",
author = "Peter Nielsen and S Carpinteiro and R Fischer and Cabeda, {J M} and G Porto and Gabbe, {E E}",
year = "1998",
language = "Deutsch",
volume = "103",
pages = "842--845",
journal = "BRIT J HAEMATOL",
issn = "0007-1048",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

AU - Nielsen, Peter

AU - Carpinteiro, S

AU - Fischer, R

AU - Cabeda, J M

AU - Porto, G

AU - Gabbe, E E

PY - 1998

Y1 - 1998

N2 - Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload.

AB - Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload.

M3 - SCORING: Zeitschriftenaufsatz

VL - 103

SP - 842

EP - 845

JO - BRIT J HAEMATOL

JF - BRIT J HAEMATOL

SN - 0007-1048

IS - 3

M1 - 3

ER -