Concepedia

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

Zhu Sheng-Yuan, Fu Xiong, Yajun Chen, Tizhen Yan, Jian Zeng, Liang Li, Yani Zhang, Wanqun Chen, Xinhua Bao, Cheng Zhang,

European Journal of Human Genetics · 2010 · 71 citations · 22 references

DOIFull text

Open access

Concepts

References

22

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

, , +6

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

, , +8

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

U. R. Monani · Human Molecular Genetics · 1999 · 944 citations

, , +12

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

, , +1

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 533 citations · Full text

, , +14