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Identification of three novel mutations: by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population - Softcover
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutations are still getting detected by using DNA sequencing for mutation analysis in MSUD patients. In the current study, we have extracted DNA from Lebanese MSUD patients in order to amplify the exonic and flanking intronic regions of the genes implicated in MSUD (BCKDHA, BCKDHB, and DBT) and sequenced the resultant amplified products to assess the molecular genetics of MSUD in the Lebanese population studied. All of the mutations identified occurred in the homozygous state, which reflects the high rate of consanguineous marriage in Lebanon. In the current study, we have identified one previously cited mutation and three novel mutations not previously described in the scientific literature. The majority of the mutations identified in the Lebanese MSUD patients occurred in the DBT gene. Consanguineous marriage is a major risk factor for the prevalence of MSUD in Lebanon.
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- PublisherScholars' Press
- Publication date2018
- ISBN 10 3639666208
- ISBN 13 9783639666205
- BindingPaperback
- Number of pages124
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Identification of three novel mutations
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Scholars' Press Mrz 2018
(2018)
ISBN 10: 3639666208
ISBN 13: 9783639666205
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Book Description Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutations are still getting detected by using DNA sequencing for mutation analysis in MSUD patients. In the current study, we have extracted DNA from Lebanese MSUD patients in order to amplify the exonic and flanking intronic regions of the genes implicated in MSUD (BCKDHA, BCKDHB, and DBT) and sequenced the resultant amplified products to assess the molecular genetics of MSUD in the Lebanese population studied. All of the mutations identified occurred in the homozygous state, which reflects the high rate of consanguineous marriage in Lebanon. In the current study, we have identified one previously cited mutation and three novel mutations not previously described in the scientific literature. The majority of the mutations identified in the Lebanese MSUD patients occurred in the DBT gene. Consanguineous marriage is a major risk factor for the prevalence of MSUD in Lebanon. 124 pp. Englisch. Seller Inventory # 9783639666205
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Identification of three novel mutations : by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population
Published by
Scholars' Press
(2018)
ISBN 10: 3639666208
ISBN 13: 9783639666205
New
Taschenbuch
Quantity: 1
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Book Description Taschenbuch. Condition: Neu. nach der Bestellung gedruckt Neuware - Printed after ordering - Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutations are still getting detected by using DNA sequencing for mutation analysis in MSUD patients. In the current study, we have extracted DNA from Lebanese MSUD patients in order to amplify the exonic and flanking intronic regions of the genes implicated in MSUD (BCKDHA, BCKDHB, and DBT) and sequenced the resultant amplified products to assess the molecular genetics of MSUD in the Lebanese population studied. All of the mutations identified occurred in the homozygous state, which reflects the high rate of consanguineous marriage in Lebanon. In the current study, we have identified one previously cited mutation and three novel mutations not previously described in the scientific literature. The majority of the mutations identified in the Lebanese MSUD patients occurred in the DBT gene. Consanguineous marriage is a major risk factor for the prevalence of MSUD in Lebanon. Seller Inventory # 9783639666205
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Identification of three novel mutations
Published by
Scholars\' Press
(2018)
ISBN 10: 3639666208
ISBN 13: 9783639666205
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Book Description Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Autor/Autorin: Tabbouche OmarDr. Omar S. Tabbouche is a Clinical Pharmacist & Molecular Biologist.He has more than 5 published articles during the last couple of years.Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic di. Seller Inventory # 385759856
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Identification of three novel mutations: by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population
Published by
Scholars' Press
(2018)
ISBN 10: 3639666208
ISBN 13: 9783639666205
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Book Description Paperback. Condition: Brand New. 124 pages. 8.66x5.91x0.28 inches. In Stock. Seller Inventory # zk3639666208
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