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A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245.
Hum Mutat. 2003.
PMID: 12872254
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.
Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S, Tizzano EF.
Parra J, et al. Among authors: jesus barcelo m.
J Matern Fetal Neonatal Med. 2012 Aug;25(8):1246-9. doi: 10.3109/14767058.2011.636101. Epub 2011 Nov 30.
J Matern Fetal Neonatal Med. 2012.
PMID: 22082206
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