Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population-Reference-Cited by-同舟云学术

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Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

Published:2010-05-05 Issue:9 Volume:18 Page:978-984
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Sheng-Yuan Zhu,Xiong Fu,Chen Ya-Jun,Yan Ti-Zhen,Zeng Jian,Li Liang,Zhang Ya-Ni,Chen Wan-Qun,Bao Xin-Hua,Zhang Cheng,Xu Xiang-Min

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201054.pdf

Reference29 articles.

1. Ogino S, Wilson RB : Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 2002; 111: 477–500.

2. Cusin V, Clermont O, Gerard B et al: Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003; 40: e39.

3. Smith M, Calabro V, Chong B et al: Population screening and cascade testing for carriers of SMA. Eur J Hum Genet 2007; 15: 759–766.

4. Ogino S, Wilson RB, Gold B : New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 2004; 12: 1015–1023.

5. Monani UR : Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 2005; 48: 885–896.

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