A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]
Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN1), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending o...
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| Päätekijät: | , , , |
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| Aineistotyyppi: | Kirja |
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Faculty of Medicine,
2024-03.
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