Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

Saved in:
Bibliographic Details
Published in:American Journal of Medical Genetics Part A 2012, Vol.158A (7), p.1735-1741
Main Authors: Thauvin-Robinet, C., Drunat, S., Saugier Veber, P., Chantereau, D., Cossée, M., Cassini, C., Soichot, P., Masurel-Paulet, A., De Monléon, J.V., Sagot, P., Huet, F., Antin, M., Calmels, N., Faivre, L., Gérard, B.
Format: Report
Language:English
Subjects:
deletion intron 6
genetic counseling
SMN1
spinal muscular atrophy
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35402