The American Journal of Human Genetics
Volume 64, Issue 5, May 1999, Pages 1340-1356
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
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Spinal muscular atrophy (SMA)
Survival motor neuron gene (SMN)
Intragenic mutations
Heterozygosity screening
Alu-mediated deletion
SMN1 dosage testing
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Copyright © 1999 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.