Document Detail


PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages.
MedLine Citation:
PMID:  23297012     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).
Authors:
K Hamzi; H Bellayou; M Itri; S Nadifi
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-8
Journal Detail:
Title:  Journal of molecular neuroscience : MN     Volume:  -     ISSN:  1559-1166     ISO Abbreviation:  J. Mol. Neurosci.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9002991     Medline TA:  J Mol Neurosci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Medical Genetic Laboratory and Molecular Pathology, Medical School, Casablanca, Morocco, Khalil.hamzi@yahoo.fr.
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