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Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral horn of the spinal cord, leading to weakness and muscle atrophy. SMA occurs as a result of homozygous deletion or mutati...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Shababi, Monir, Lorson, Christian L, Rudnik-Schöneborn, Sabine S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Blackwell Science Inc 2014
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3867883/
https://ncbi.nlm.nih.gov/pubmed/23876144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/joa.12083
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