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SMN1 gene copy number analyses for SMA healthy carriers in Italian population
The routine molecular test for spinal muscular atrophy (SMA) diagnosis is based on the detection of a homozygous deletion of exons 7 and 8 of the telomeric copy of the survival motor neuron gene (SMN1). The presence of the centromeric copy of the SMN gene (SMN2) does not allow the detection of the h...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020927/ https://ncbi.nlm.nih.gov/pubmed/27625809 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-017 |
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