Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis‿
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- 作者：Maryam Abiria ; b ; Razieh Karamzadehc ; d ; Morteza Karimipoorb ; Shirin Ghadamib ; Mohammad Reza Alaeie ; Samira Dabagh Bagherif ; Hamideh Bagherianf ; Aria Setoodehg ; Mohammad Reza Noori-Daloiia ; Sirous Zeinalib ; f ; zeinali@kawsar.ir" class="auth_mail" title="E-mail the corresponding author
- 关键词：MSUD ; BCKDHA gene ; Iran ; Mutation analysis
- 刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：786
- 期：Complete
- 页码：34-40
- 全文大小：1834 K
文摘
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Molecular screening of patients can make epidemiological data for implantation of community-based carrier testing in populations.
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Using homozygosity mapping as a powerful tool to indirectly finding the probable mutated gene.
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Using computational approaches to analyze mutations in terms of their impact on protein structure.