SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion-Reference-Cited by-同舟云学术

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SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Published:2000-02 Issue:2 Volume:8 Page:79-86
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Scheffer Hans,Cobben Jan Maarten,Mensink Rob GJ,Stulp Rein P,van der Steege Gerrit,Buys Charles HCM

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200404.pdf

Cited by 46 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spinal muscular atrophy carrier frequency in Saudi Arabia;Molecular Genetics & Genomic Medicine;2022-09-05

2. Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors;Journal of Genetic Counseling;2015-08-08

3. Newborn screening for spinal muscular atrophy: Anticipating an imminent need;Seminars in Perinatology;2015-04

4. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials;Annals of Human Genetics;2013-07-23

5. Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR;Genetics and Molecular Biology;2012

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