Concepedia

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

Ivon Cuscó, M. J. Barceló, Elisabeth del Río, Yolanda Martín, Concepción Hernández-Chico, Elena Bussaglia, Montserrat Baiget, Eduardo F. Tizzano

Human Genetics · 2001 · 42 citations · 20 references

DOI

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References

20

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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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Natalie Roy, Mani S. Mahadevan, Michael D. McLean et al. · Cell · 1995 · 971 citations · Full text

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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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Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

Louise J. Campbell, Allyson C. Potter, Jaakko Ignatius et al. · The American Journal of Human Genetics · 1997 · 319 citations · Full text

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