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

Screening for carriers of spinal muscular atrophy (SMA) is necessary for effective clinical/prenatal diagnosis and genetic counseling. However, a population-based study of SMA prevalence in mainland China has not yet been conducted. In this study, the copy number of survival motor neuron ( SMN ) gen...

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Veröffentlicht in:	European journal of human genetics : EJHG 2010-09, Vol.18 (9), p.978-984
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/737 692/699/375/1824 692/700/478/2772 Alleles Base Sequence Bioinformatics Biomedical and Life Sciences Biomedicine Cell survival China Chromatography Chromatography, High Pressure Liquid Clonal deletion Copy number Cord blood Cytogenetics DNA Primers Exons Female Gene deletion Gene Expression Gene Frequency Genes Genetic Carrier Screening Genetic counseling Genetic load Genetic screening Genetics Genotypes Genotyping Human Genetics Humans Infant, Newborn Introns Male Motor neurons Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - ethnology Muscular Atrophy, Spinal - genetics Mutation Neonates Neurology Point mutation Population Population genetics Population studies Prenatal diagnosis Quantitative analysis SMN protein Spinal muscular atrophy Survival of Motor Neuron 1 Protein - genetics
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