Concepedia

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

Chien‐Hao Huang, Yih-Yuan Chang, Chung‐Hsiung Chen, Yen-Shi Kuo, Wuh‐Liang Hwu, Tommy Gerdes, Tsang‐Ming Ko

Genetics in Medicine · 2007 · 61 citations · 20 references

DOI

Concepts

References

20

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

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

, , +16

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

Natural History in Proximal Spinal Muscular Atrophy

Klaus Zerres · Archives of Neurology · 1995 · 557 citations

, , +10

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

Micaela A. Godoy Herz, A Wetter, S. Moskau et al. · The American Journal of Human Genetics · 1999 · 364 citations · Full text

, , +17