| [Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]. | |
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MedLine Citation:
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PMID: 23214250 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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OBJECTIVE: To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD). METHODS: We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database. RESULTS: Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database. CONCLUSION: There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners. |
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Authors:
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Qiang Du; Yuan-Yuan Fang; Yong-Feng Pan; Bo-Chen Pan; Yong-Sheng Song; Bin Wu |
Publication Detail:
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Type: English Abstract; Journal Article |
Journal Detail:
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Title: Zhonghua nan ke xue = National journal of andrology Volume: 18 ISSN: 1009-3591 ISO Abbreviation: Zhonghua Nan Ke Xue Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-12-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101093592 Medline TA: Zhonghua Nan Ke Xue Country: China |
Other Details:
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Languages: chi Pagination: 999-1003 Citation Subset: IM |
Affiliation:
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Department of Reproduction, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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