Concepedia

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

Eva Zapletalová, Petra Hedvičáková, Libor Kozák, Petr Vondráček, Renata Gaillyová, Tat’ána Mařı ́ková, Zdeněk Kalina, V Jüttnerová, Jiřı́ Fajkus, Lenka Fajkusová

Neuromuscular Disorders · 2007 · 39 citations · 14 references

DOI

Concepts

References

14

A new mathematical model for relative quantification in real-time RT-PCR

Michael W. Pfaffl · Nucleic Acids Research · 2001 · 34.9K citations · Full text

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A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Identification and characterization of a spinal muscular atrophy-determining gene

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

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

Luca Cartegni, Adrian R. Krainer · Nature Genetics · 2002 · 714 citations

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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

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