CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
| العنوان: | CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63 |
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| المؤلفون: | Richard J. Leventer, Paul J. Lockhart, Ashley P L Marsh, Gaia Novarino |
| المصدر: | European Journal of Human Genetics. 27:161-166 |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Paraplegia, 0303 health sciences, 030305 genetics & heredity, Pontocerebellar hypoplasia, Chromosome, Anatomy, Biology, medicine.disease, Sensitivity and Specificity, AMP Deaminase, 03 medical and health sciences, Cerebellar diseases, Cerebellar Diseases, Clinical Utility Gene Card, Mutation, Genetics, medicine, Spastic, Humans, Genetic Testing, Genetics (clinical) |
| الوصف: | 1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771. |
| تدمد: | 1476-5438 1018-4813 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca1493246b80f59a100d7001db59d5b https://doi.org/10.1038/s41431-018-0231-2 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....cca1493246b80f59a100d7001db59d5b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 10184813 |
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