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A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA
Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number. Approximately 3–5% of patients with SMA retain at least one copy of the SMN1 gene carrying pathogenic insertions, deletions, or point mutations. We r...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Blackwell Publishing Ltd
2013
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3865576/ https://ncbi.nlm.nih.gov/pubmed/24498607 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.10 |
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