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Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I–IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 du...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Sociedade Brasileira de Genética
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3571419/ https://ncbi.nlm.nih.gov/pubmed/23412967 |
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