Alsin is a protein that in humans is encoded by the ALS2gene.[5][6]ALS2orthologs[7] have been identified in all mammals for which complete genome data are available.
Yang Y, Hentati A, Deng HX, etal. (2001). "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis". Nat. Genet. 29 (2): 160–5. doi:10.1038/ng1001-160. PMID11586297. S2CID9036123.
Birkenhäger R, Otto E, Schürmann MJ, etal. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID11687798. S2CID5892001.
Nagano I, Murakami T, Shiote M, etal. (2003). "Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis". Neurol. Res. 25 (5): 505–9. doi:10.1179/016164103101201733. PMID12866199. S2CID42350605.
Devon RS, Helm JR, Rouleau GA, etal. (2004). "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings". Clin. Genet. 64 (3): 210–5. doi:10.1034/j.1399-0004.2003.00138.x. PMID12919135. S2CID27423316.
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