Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene
The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of who...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Third Party Medicine International Publishing Group Co. Limited
2016-09-01
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| Series: | Journal of International Translational Medicine |
| Subjects: | |
| Online Access: | http://www.jitm.hk/EN/abstract/abstract219.shtml |