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A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosisCukjati, Marko ...A 47-year-old white male patient who manifested biochemical evidence of iron overload was found not to be a carrier of the three most common mutations, C282Y, H63D and S65C, of the HFE gene. ... Sequencing of the patient's entire HFE-coding region revealed a presence of a previously undescribed frameshift deletion c.471del in exon 3 resulting in a premature termination of a nonsenseHFE protein. Interestingly, the patient was a homozygous carrier of this novel mutation and his hemochromatosis phenotype can be explained by the fact that he has no intact HFE protein. To the best of our knowledge, this is the first description of a complete loss of function of the HFE gene because of a homozygous mutation. The patient's son was found to be a heterozygous carrier of the mutation and has so far exhibited no indications of iron overload. Similarly, A*02-B*40/A*02-B*40 homozygous human leukocyte antigen (HLA) genotype was determined in the patient and heterozygous A*02-B*40/A*03-B*35 HLA genotype in his son. Thus, the novel HFE frameshift deletion c.471del was linked to the HLA-A*02-B*40 haplotype.Vir: Clinical genetics. - ISSN 0009-9163 (Letn. 71, št. 4, 2007, str. 350-353)Vrsta gradiva - članek, sestavni delLeto - 2007Jezik - angleškiCOBISS.SI-ID - 22999257
Avtor
Cukjati, Marko |
Koren, Simon, 1979- |
Čurin-Šerbec, Vladka |
Vidan-Jeras, Blanka |
Rupreht, Ruth
Teme
Sequence Deletion |
Base Sequence |
Cloning, Molecular |
Dna Mutational Analysis |
Dna Primers |
Genetics |
Genotype |
Haplotypes |
Hemochromatosis |
Genetics |
Immunology |
Histocompatibility Antigens Class I |
Genetics |
Histocompatibility Testing |
Homozygote |
Membrane Proteins |
Genetics |
Phenotype |
Zaporedje, delecija |
Baze, zaporedje |
DNA mutacijska analiza |
DNA začetki |
Fenotip |
Genotip |
Haplotipi |
Hemokromatoza |
Histokompatibilnost, testiranje |
Histokompatibilnostni antigeni razred I |
Homozigota |
Kloniranje molekulsko |
Membranske beljakovine
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Cukjati, Marko | 20611 |
Koren, Simon, 1979- | 25973 |
Čurin-Šerbec, Vladka | 05236 |
Vidan-Jeras, Blanka | 10453 |
Rupreht, Ruth | 15103 |
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