Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference48 articles.
1. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type 1;Brahe;Hum Mol Genet,1996
2. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis;Brahe;Hum Genet,1994
3. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowicz;Nature,1990
4. Linkage mapping of the spinal muscular atrophy gene;Burghes;Hum Genet,1994
5. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene;Burghes;Genomics,1994
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