The identification of a novel splicing mutation in the DMD gene of a Chinese family
Abstract The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-12-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.5166 |
| _version_ | 1818975574935207936 |
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| author | Wanlu Liu Xinwei Shi Yuqi Li Fuyuan Qiao Yuanyuan Wu |
| author_facet | Wanlu Liu Xinwei Shi Yuqi Li Fuyuan Qiao Yuanyuan Wu |
| author_sort | Wanlu Liu |
| collection | DOAJ |
| description | Abstract The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices. |
| first_indexed | 2024-12-20T15:58:07Z |
| format | Article |
| id | doaj.art-9098f3db7e1e4cbdbac996e53a4cc3aa |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-20T15:58:07Z |
| publishDate | 2021-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-9098f3db7e1e4cbdbac996e53a4cc3aa2022-12-21T19:34:22ZengWileyClinical Case Reports2050-09042021-12-01912n/an/a10.1002/ccr3.5166The identification of a novel splicing mutation in the DMD gene of a Chinese familyWanlu Liu0Xinwei Shi1Yuqi Li2Fuyuan Qiao3Yuanyuan Wu4Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan ChinaDepartment of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan ChinaDepartment of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan ChinaDepartment of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan ChinaDepartment of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Wuhan ChinaAbstract The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.https://doi.org/10.1002/ccr3.5166c.2293‐1G>CDMD geneminigenesplicing mutation |
| spellingShingle | Wanlu Liu Xinwei Shi Yuqi Li Fuyuan Qiao Yuanyuan Wu The identification of a novel splicing mutation in the DMD gene of a Chinese family Clinical Case Reports c.2293‐1G>C DMD gene minigene splicing mutation |
| title | The identification of a novel splicing mutation in the DMD gene of a Chinese family |
| title_full | The identification of a novel splicing mutation in the DMD gene of a Chinese family |
| title_fullStr | The identification of a novel splicing mutation in the DMD gene of a Chinese family |
| title_full_unstemmed | The identification of a novel splicing mutation in the DMD gene of a Chinese family |
| title_short | The identification of a novel splicing mutation in the DMD gene of a Chinese family |
| title_sort | identification of a novel splicing mutation in the dmd gene of a chinese family |
| topic | c.2293‐1G>C DMD gene minigene splicing mutation |
| url | https://doi.org/10.1002/ccr3.5166 |
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