SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR-Reference-Cited by-同舟云学术

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Published:2015-03-21 Issue:4 Volume:3 Page:248-257
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Stabley Deborah L.¹,Harris Ashlee W.²,Holbrook Jennifer¹,Chubbs Nicholas J.³,Lozo Kevin W.³,Crawford Thomas O.⁴⁵,Swoboda Kathryn J.⁶,Funanage Vicky L.²⁷⁸,Wang Wenlan²⁷⁸,Mackenzie William⁹,Scavina Mena¹⁰,Sol‐Church Katia¹,Butchbach Matthew E. R.²³⁷⁸^ORCID

Affiliation:

1. Nemours Biomolecular Core Laboratory Nemours Biomedical Research Nemours Alfred I. duPont Hospital for Children Wilmington Delaware

2. Center for Applied Clinical Genomics Nemours Biomedical Research Nemours Alfred I. duPont Hospital for Children Wilmington Delaware

3. Department of Biological Sciences University of Delaware Newark Delaware

4. Department of Neurology Johns Hopkins University Baltimore Maryland

5. Department of Pediatrics Johns Hopkins University Baltimore Maryland

6. Neurogenetics Research Program Center for Human Genetics Research Massachusetts General Hospital Boston Massachusetts

7. Center for Pediatric Research Nemours Biomedical Research Nemours Alfred I. duPont Hospital for Children Wilmington Delaware

8. Department of Pediatrics Thomas Jefferson University Philadelphia Pennsylvania

9. Division of Orthopedics Nemours Alfred I. duPont Hospital for Children Wilmington Delaware

10. Division of Neurology Nemours Alfred I. duPont Hospital for Children Wilmington Delaware

Funder

National Institutes of Health

Nemours Foundation

Nemours Fund for Children's Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.141

Reference53 articles.

1. Determination of SMN1 and SMN2 copy number using TaqMan™ technology

2. Structure and transcription of a human gene for H1 RNA, the RNA component of human RNase P

3. Large-scale population screening for spinal muscular atrophy: Clinical implications

4. Regulation of SMN Protein Stability

5. The survival motor neuron protein in spinal muscular atrophy

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