Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype
G Le Gac, I Gourlaouen, C Ronsin… - Blood, The Journal …, 2008 - ashpublications.org
Hemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is carried by approximately 1 person in 200 in Northern European
populations. However, p. C282Y homozygosity is often characterized by incomplete
penetrance. Here, we describe the case of a woman who had a major structural alteration in
the HFE gene. Molecular characterization revealed an Alu-mediated recombination leading
to the loss of the entire HFE gene sequence. Although homozygous for the HFE deleted …
genotype, which is carried by approximately 1 person in 200 in Northern European
populations. However, p. C282Y homozygosity is often characterized by incomplete
penetrance. Here, we describe the case of a woman who had a major structural alteration in
the HFE gene. Molecular characterization revealed an Alu-mediated recombination leading
to the loss of the entire HFE gene sequence. Although homozygous for the HFE deleted …
[PDF][PDF] Homozygous deletion of HFE produces a phenotype similar to the HFE
SQ Parquet, C Le Marechal, JM Chen, C Ferec - researchgate.net
Hemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is carried by approximately 1 person in 200 in Northern European
populations. However, p. C282Y homozygosity is often characterized by incomplete
penetrance. Here, we describe the case of a woman who had a major structural alteration in
the HFE gene. Molecular characterization revealed an Alu-mediated recombination leading
to the loss of the entire HFE gene sequence. Although homozygous for the HFE deleted …
genotype, which is carried by approximately 1 person in 200 in Northern European
populations. However, p. C282Y homozygosity is often characterized by incomplete
penetrance. Here, we describe the case of a woman who had a major structural alteration in
the HFE gene. Molecular characterization revealed an Alu-mediated recombination leading
to the loss of the entire HFE gene sequence. Although homozygous for the HFE deleted …
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