Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene
Author:
Funder
Telemarató Malalties Hereditaries
FIS
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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5. Prenatal diagnosis for risk of spinal muscular atrophy;Cuscó;Br J Obstet Gynaecol,2002
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2. NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study;European Journal of Human Genetics;2020-09-03
3. Spinal muscular atrophy – a revisit of the diagnosis and treatment modalities;International Journal of Neuroscience;2019-07-04
4. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases;Neuromuscular Disorders;2018-03
5. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing;Genetics in Medicine;2017-08
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