دورية أكاديمية
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
| العنوان: | The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis |
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| المؤلفون: | Walsh, Alissa, Dixon, Jeannette L., Ramm, Grant A., Hewett, David G., Lincoln, Douglas J., Anderson, Gregory J., Subramaniam, V. Nathan, Dodemaide, Julian, Cavanaugh, Juleen A., Bassett, Mark L., Powell, Lawrie W. |
| بيانات النشر: | W.B. Saunders |
| سنة النشر: | 2006 |
| المجموعة: | The University of Queensland: UQ eSpace |
| مصطلحات موضوعية: | Hemochromatosis, C282Y, C282Y/H63D, Homozygotes, 110307 Gastroenterology and Hepatology |
| الوصف: | Background & Aims: Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y substitution have been well characterized, the clinical significance of the C282Y/H63D state remains unclear. This study assessed the phenotypic expression in C282Y/H63D subjects as compared with C282Y homozygotes. Methods: Data were obtained from 91 C282Y/H63D probands, 158 C282Y/ H63D subjects identified through family screening, and 483 C282Y homozygotes. Subjects underwent clinical evaluation, genotyping, biochemical assessment, and liver biopsy examination where clinically indicated. Results: C282Y/H63D probands had significantly less clinical and biochemical expression than C282Y homozygotes. Biochemical expression was higher in C282Y/H63D probands than in C282Y/H63D subjects identified through family screening (P |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1542-3565 1542-7714 |
| العلاقة: | orcid:0000-0002-4529-3543; orcid:0000-0002-8814-5866; orcid:0000-0002-4583-7790; 5R01DK057648-04 |
| الإتاحة: | https://doi.org/10.1016/j.cgh.2006.07.009Test https://espace.library.uq.edu.au/view/UQ:190416Test |
| رقم الانضمام: | edsbas.7EDEA27C |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 15423565 15427714 |
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