| Two closely spaced nonsense mutations in the DMD gene in a Malaysian family. | |
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MedLine Citation:
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PMID: 21514860 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy. |
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Authors:
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Abdul Qawee Rani; Rusdy Ghazali Malueka; Teguh Haryo Sasongko; Hiroyuki Awano; Tomoko Lee; Mariko Yagi; Bin Alwi Zilfalil; A B Razak Salmi; Yasuhiro Takeshima; Z A M H Zabidi-Hussin; Masafumi Matsuo |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-8 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: - ISSN: 1096-7206 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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