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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins

Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease and the leading genetic cause of death of young children. The survival of motor neurons (SMN) gene, the SMA disease gene, is homozygously deleted or mutated in more than 98% of SMA patients. The SMN protein interacts with it...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Pellizzoni, Livio, Charroux, Bernard, Dreyfuss, Gideon
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The National Academy of Sciences 1999
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC18005/
https://ncbi.nlm.nih.gov/pubmed/10500148
Etiketak: Etiketa erantsi
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