Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Author:
Funder
FIPE-HCPA
Instituto Nacional de Genética Médica Populacional
CNPq
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-019-0657-3.pdf
Reference10 articles.
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2. Giugliani R, Federhen A, Michelin-Tirelli K, Riegel M, Burin M. Relative frequency and estimated minimal frequency of lysosomal storage diseases in Brazil: report from a reference laboratory. Genet Mol Biol. 2017;40(1):31–9 Available from: http://www.ncbi.nlm.nih.gov/pubmed/28304074 . [cited 2018 May 22].
3. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91 Available from: http://www.nature.com/articles/nature19057 . [cited 2018 Dec 12].
4. Naslavsky MS, Yamamoto GL, de Almeida TF, Ezquina SAM, Sunaga DY, Pho N, et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017;38(7):751–63 Available from: http://doi.wiley.com/10.1002/humu.23220 . [cited 2018 Jun 22].
5. Ricketts MH, Goldman D, Long JC, Manowitz P. Arylsulfatase a pseudodeficiency-associated mutations: population studies and identification of a novel haplotype. Am J Med Genet. 1996;67(4):387–92 Available from: http://www.ncbi.nlm.nih.gov/pubmed/8837707 . [cited 2018 Jun 11].
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