脊髓性肌萎缩症SMN1基因 2+0基因型携带者的家系研究
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曹延延, 程苗苗, 宋昉, 瞿宇晋, 白晋丽, 金煜炜, 王红
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Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
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Yanyan Cao, Miaomiao Cheng, Fang Song, Yujin Qu, Jinli Bai, Hong Wang
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表1 SMN1拷贝数和基因型的分布
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Table 1 the distribution of copies and genotypes in SMN1
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| SMN1拷贝数 | SMN1基因型 | 先证者(%) | 先证者父亲(%) | 先证者母亲(%) | 先证者祖父/母(%) | 先证者外祖父/母(%) | 先证者同胞(%) | | 0 | 0+0 | 9 (100) | 0 | 0 | 0 | 0 | 0 | | 1 | 1+0 | 0 | 6 (66.7) | 3 (33.3) | 3 (50) | 4 (44.4) | 0 | | 2 | 2+0 | 0 | 3(33.3) | 6 (66.7) | 0 | 0 | 1 (50) | | 3 | 2+1 | 0 | 0 | 0 | 3 (50) | 5 (55.6) a | 1 (50) | | 合计 | - | 9 | 9 | 9 | 6 | 9 | 2 |
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