article Open AccessTop 1% cited
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
The American Journal of Human Genetics · 2002 · Vol. 70(2) · pp. 358–368
Markus Feldkötter✉(Institute of Human Genetics)Verena Schwarzer(Institute of Human Genetics)Radu Wirth(University of Bonn)Thomas F. WienkerBrunhilde Wirth(Institute of Human Genetics)
Neurogenetic and Muscular Disorders ResearchCardiac Structural Anomalies and RepairCongenital Anomalies and Fetal SurgerySMN1Spinal muscular atrophyReal-time polymerase chain reactionBiologyDigital polymerase chain reactionMedicineComputational biologyPathologyInternal medicineGenetics
MeSH terms
Base SequenceChildChild, PreschoolFemaleGenetic TestingAdolescentAdultAgedAged, 80 and overAllelesHaplotypesHeterozygoteHumansInfantInfant, Newborn
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1,003
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References
Applied logistic regression
Choice Reviews Online · 1990 · 35,647 citations
The survival motor neuron protein in spinal muscular atrophy
Human Molecular Genetics · 1997 · 710 citations
A simple salting out procedure for extracting DNA from human nucleated cells
Nucleic Acids Research · 1988 · 20,510 citations
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
Human Molecular Genetics · 2000 · 726 citations
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
Human Molecular Genetics · 1999 · 938 citations
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