N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: No evidence for disease causation
| العنوان: | N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: No evidence for disease causation |
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| المؤلفون: | Helene-Farnase Jafari-Schluep, Gérard Besson, William Camu, Valerie Briolotti, Philippe Corcia, Véronique Mayeux |
| المصدر: | Annals of Neurology. 53:815-818 |
| بيانات النشر: | Wiley, 2003. |
| سنة النشر: | 2003 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Pathology, SOD1, Gene Expression, Gastroenterology, Genetic determinism, Central nervous system disease, Superoxide dismutase, Superoxide Dismutase-1, Degenerative disease, Internal medicine, Humans, Point Mutation, Medicine, Age of Onset, Amyotrophic lateral sclerosis, Aged, Aged, 80 and over, biology, Superoxide Dismutase, business.industry, Genetic Carrier Screening, Point mutation, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Pedigree, Neurology, biology.protein, Female, Neurology (clinical), Age of onset, business |
| الوصف: | In a group of 331 sporadic amyotrophic lateral sclerosis (ALS) cases, we identified a new Cu/Zn superoxide dismutase single base substitution, N19S, in two patients. In the first case, seven healthy family members of 15 carried the substitution. Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. Our data show that, despite a possible role of susceptibility factor for ALS, N19S alone cannot be considered as a direct cause for the disease. |
| تدمد: | 1531-8249 0364-5134 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c00968b5d5de1ceaf75c28b90030950Test https://doi.org/10.1002/ana.10605Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....2c00968b5d5de1ceaf75c28b90030950 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15318249 03645134 |
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