Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling-Reference-Cited by-同舟云学术

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Published:2018-06-14 Issue:10 Volume:26 Page:1554-1557
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Alías Laura,Bernal Sara,Calucho Maite,Martínez Elisabeth,March Francesca,Gallano Pia,Fuentes-Prior Pablo,Abuli Anna,Serra-Juhe Clara,Tizzano Eduardo F.

Funder

Fundación Privada Daniel Bravo Andreu

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0193-4.pdf

Reference16 articles.

1. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of 72,400 specimens. Eur J Hum Genet. 2012;20:27–32.

2. Alías S, Barceló M, Bernal S, et al. Improving detection and genetic counseling in carriers of Spinal Muscular Atrophy with two copies of the SMN1 gene. Clin Genet. 2014;85:470–5.

3. Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Ther. 2017;24:529–33.

4. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a Spinal Muscular Atrophy-determining gene. Cell. 1995;80:155–65.

5. Prior TW, Krainer AR, Hua Y. et al: A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009;85:408–13.

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