Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

Author:

Wei Xianda,Tan Hu,Yang Pu,Zhang Rui,Tan Bo,Zhang Yue,Mei Libin,Liang Desheng,Wu Lingqian

Funder

Ministry of Science and Technology of the People’s Republic of China

Publisher

Wiley

Subject

Genetics(clinical)

Reference47 articles.

1. Alías, L., Barcelo, M. J., Bernal, S., Martínez-Hernández, R., Also-Rallo, E., Vázquez, C., et al. (2014). Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clinical Genetics, 85, 470–475.

2. Burghes, A. H. M. (1997). When is a deletion not a deletion: when it is converted. American Journal of Human Genetics, 61, 9–15.

3. Burglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., et al. (1996). Structure and organization of the human survival motor neurone (SMN) gene. Genomics, 32, 479–482.

4. *Cao, D., Ren, M., Lin, C., Cui, W., Ma, H., Wu, Y., et al. (2009). Gene diagnosis for spinal muscular atrophy and its application study. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 26, 306–309.

5. *Cao, Y., Qu, Y., Song, F., Bai, J., Jin, Y., Wang, H., et al. (2013). ection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 30, 410–414.

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