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Screening for spinal muscular atrophy.

Authors :
Sampaio, Hugo
Wilcken, Bridget
Farrar, Michelle
Source :
Medical Journal of Australia; 8/20/2018, Vol. 209 Issue 4, p147-148, 2p
Publication Year :
2018

Abstract

The article discusses newborn screening (NBS) and early diagnosis of spinal muscular atrophy (SMA), including the role mutations of the SMN2 and SMN1 genes play in developing SMA.

Subjects

Subjects :
SPINAL muscular atrophy
NEWBORN screening
EARLY diagnosis
TREATMENT of spinal muscular atrophy
GENETIC techniques

Details

Language :
English
ISSN :
0025729X
Volume :
209
Issue :
4
Database :
Complementary Index
Journal :
Medical Journal of Australia
Publication Type :
Academic Journal
Accession number :
131316407
Full Text :
https://doi.org/10.5694/mja17.00772
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