Delineation of the Spectrum of Wilson Disease Mutations in the Greek Population and the Identification of Six Novel Mutations
| العنوان: | Delineation of the Spectrum of Wilson Disease Mutations in the Greek Population and the Identification of Six Novel Mutations |
|---|---|
| المؤلفون: | Mario Lovicu, Maria Tzetis, Nina Manolaki, Emmanuel Kanavakis, Antonio Cao, Paola Solinas, Themistoklis Karpathios, Georgios Loudianos, Eleni Panagiotakaki |
| المصدر: | Genetic Testing. 4:399-402 |
| بيانات النشر: | Mary Ann Liebert Inc, 2000. |
| سنة النشر: | 2000 |
| مصطلحات موضوعية: | media_common.quotation_subject, DNA Mutational Analysis, Nonsense, Population, Biology, medicine.disease_cause, Hepatolenticular Degeneration, Polymorphism (computer science), medicine, Humans, Missense mutation, Genetic Testing, Allele, education, Cation Transport Proteins, Alleles, Genetics (clinical), Genetic testing, media_common, Adenosine Triphosphatases, Genetics, Mutation, education.field_of_study, Polymorphism, Genetic, Greece, medicine.diagnostic_test, Copper-Transporting ATPases, Allelic heterogeneity, Carrier Proteins |
| الوصف: | In this study, we report the further results of an ongoing project on the delineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analyzed 24 additional families and detected 16 mutations (five frameshifts, two splice site, two nonsense, and seven missense), of which six are novel. On adding these results to the ones already published by us, we conclude that WD shows a marked allelic heterogeneity in the Greek population. Of the total number of mutations so far detected, the most common eight account for the molecular defect in 72.8% of the WD chromosomes. The most frequent mutation is the His0169Gln, which has a frequency of 28.5%, similar to those reported in North European populations. Using these data, an efficient strategy of mutation screening for WD is possible in this population, thus improving the possibility of preclinical diagnosis. |
| تدمد: | 1557-7473 1090-6576 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1f81de3eab9b86464c348365bfb3f3Test https://doi.org/10.1089/109065700750065162Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....ef1f81de3eab9b86464c348365bfb3f3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15577473 10906576 |
|---|