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The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence
Anderson and co-workers (2004) reported a homozygous 2,502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy (NM) [1]. We determined the occurrence of this deletion in a world-wide series of 355 NM probands with no previously known mutation in...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2713598/ https://ncbi.nlm.nih.gov/pubmed/19232495 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2008.12.001 |
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