| Autor: |
Wanting FENG, Fangfang WU, Junyi CHEN, Bin YANG |
| Jazyk: |
čínština |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Pifu-xingbing zhenliaoxue zazhi, Vol 28, Iss 3, Pp 170-173,189 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1674-8468 |
| DOI: |
10.3969/j.issn.1674-8468.2021.03.003 |
| Popis: |
Objective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of their parents. Results: Six patients had homozygous mutation of c. 565C>T. Four of them were identified as autosomal recessive inheritance. Mutation of either c. 660T>G, or c. 1056_1056delT, or c. 754G>A each was found in one patient. Conclusions: c.565C>T may be a common mutation site in ACD patients in China. The pathogenesis and function of the new mutation, c. 754G>A, warrant further study. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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