Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Author:
Funder
Biogen
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-017-0671-8.pdf
Reference116 articles.
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3. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–65.
4. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999;64:1340–56.
5. Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet. 2009;125:29–39.
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