Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variant...
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
About this item
Full title
Author / Creator
Ruhno, Corey , McGovern, Vicki L. , Avenarius, Matthew R. , Snyder, Pamela J. , Prior, Thomas W. , Nery, Flavia C. , Muhtaseb, Abdurrahman , Roggenbuck, Jennifer S. , Kissel, John T. , Sansone, Valeria A. , Siranosian, Jennifer J. , Johnstone, Alec J. , Nwe, Pann H. , Zhang, Ren Z. , Swoboda, Kathryn J. and Burghes, Arthur H. M.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1
(SMN1)
gene and retention of
SMN2
. We performed targeted capture and sequencing of the
SMN2, CFTR
, and
PLS3
genes in 217 SMA patients. We identified a 6.3 kilobase deletion that occurred in both
...
Alternative Titles
Full title
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6503527
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6503527
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-019-01983-0
