Article: [Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019 Volume 36, Issue 8, Page(s) 805–808
Abstract: Objective: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia ... secondary to hypomagnesemia.: Methods: Sanger sequencing was used to detect potential variant ... of pathogenicity.: Conclusion: The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably ...
| Abstract | Objective: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. Methods: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. Results: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. Conclusion: The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient. |
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| MeSH term(s) | Heterozygote ; Humans ; Hypocalcemia/genetics ; Magnesium ; Magnesium Deficiency/genetics ; Male ; Pedigree ; TRPM Cation Channels/genetics |
| Chemical Substances | TRPM Cation Channels ; TRPM6 protein, human ; Magnesium (I38ZP9992A) |
| Language | Chinese |
| Publishing date | 2019-09-03 |
| Publishing country | China |
| Document type | Journal Article |
| ISSN | 1003-9406 |
| ISSN | 1003-9406 |
| DOI | 10.3760/cma.j.issn.1003-9406.2019.08.013 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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