| PCR-RFLP, Sequencing, and Quantification in Molecular Diagnosis of Spinal Muscular Atrophy: Limits and Advantages. | |
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MedLine Citation:
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PMID: 23297012 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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). |
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Authors:
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K Hamzi; H Bellayou; M Itri; S Nadifi |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-8 |
Journal Detail:
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Title: Journal of molecular neuroscience : MN Volume: - ISSN: 1559-1166 ISO Abbreviation: J. Mol. Neurosci. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9002991 Medline TA: J Mol Neurosci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Medical Genetic Laboratory and Molecular Pathology, Medical School, Casablanca, Morocco, Khalil.hamzi@yahoo.fr. |
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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