Loading...
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...
Na minha lista:
| Udgivet i: | J Pediatr Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2012
|
| Fag: | |
| Online adgang: | 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 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|