File:Ijms-24-11939-g002-550.webp

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Ijms-24-11939-g002-550.webp ‎(550 × 343 pixels, file size: 26 KB, MIME type: image/webp)

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Spinal Muscular Atrophy

Summary[edit]

Description
English: Figure 2. SMN genes in chromosome 5q13. In 1995, two SMA-related genes, SMN1 and SMN2, were identified in 5q13 region [12]. These two genes were paralogs. The SMN1 gene, located in the telomeric side, is the gene responsible for SMA; its loss or defect causes SMA with different phenotypes. The SMN2 gene, located in the centromeric side, is a modifier gene for SMA; its copy number is associated with the severity of the disease. SMN1 and SMN2 were originally reported to exist in an inverted duplication [12]; however, recently, a tandem duplication model has been presented
Date
Source https://www.mdpi.com/1422-0067/24/15/11939
Author Nishio, H.; Niba, E.T.E.; Saito, T.; Okamoto, K.; Takeshima, Y.; Awano, H.

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current20:16, 16 March 2024Thumbnail for version as of 20:16, 16 March 2024550 × 343 (26 KB)Ozzie10aaaa (talk | contribs)Uploaded a work by Nishio, H.; Niba, E.T.E.; Saito, T.; Okamoto, K.; Takeshima, Y.; Awano, H. from https://www.mdpi.com/1422-0067/24/15/11939 with UploadWizard

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