Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation
| العنوان: | Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation |
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| المؤلفون: | Shay Ben-Shachar, Shlomi Constantini, Gareth Evans, Emma K Sach, Meena Upadhyaya, Hen Hallevi, Susan M Huson |
| المصدر: | European Journal of Human Genetics. 21:535-539 |
| بيانات النشر: | Springer Science and Business Media LLC, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, Mutation rate, Neurofibromatosis 1, Genotype, Population, Gene mutation, Article, Cohort Studies, Mutation Rate, Genetics, Humans, Missense mutation, Medicine, education, neoplasms, Genetics (clinical), Watson syndrome, Likelihood Functions, education.field_of_study, Neurofibromin 1, biology, business.industry, Noonan Syndrome, medicine.disease, eye diseases, nervous system diseases, Pulmonary Valve Stenosis, Phenotype, biology.protein, Noonan syndrome, business |
| الوصف: | Neurofibromatosis type 1 (NF1) and its related disorders (NF1-Noonan syndrome (NFNS) and Watson syndrome (WS)) are caused by heterozygous mutations in the NF1 gene. Pulmonary stenosis (PS) occurs more commonly in NF1 and its related disorders than in the general population. This study investigated whether PS is associated with specific types of NF1 gene mutations in NF1, NFNS and WS. The frequency of different NF1 mutation types in a cohort of published and unpublished cases with NF1/NFNS/WS and PS was examined. Compared with NF1 in general, NFNS patients had higher rates of PS (9/35=26% vs 25/2322=1.1%, P value |
| تدمد: | 1476-5438 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bc10c5d0d86a707757444ac80f4cffTest https://doi.org/10.1038/ejhg.2012.221Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e2bc10c5d0d86a707757444ac80f4cff |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 10184813 |
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