التفاصيل البيبلوغرافية
| العنوان: |
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| المؤلفون: |
Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu |
| بيانات النشر: |
International Journal of Endocrinology |
| سنة النشر: |
2018 |
| المجموعة: |
Hindawi Publishing Corporation |
| الوصف: |
Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods. We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. Results. DNA sequencing showed that the genetic missense mutation occurred one bp upstream of exon 6 in the SEDL gene in two families, and a heterozygous mutation was found in a female carrier. In addition, no mutation was found in the other members of the family. Conclusion. SEDT in this family was caused by a G/C missense mutation in exon 6 of the SEDL gene, previously not shown to be associated with X-linked SEDT. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
https://doi.org/10.1155/2018/8263136Test |
| DOI: |
10.1155/2018/8263136 |
| الإتاحة: |
https://doi.org/10.1155/2018/8263136Test |
| حقوق: |
Copyright © 2018 Lei Kong et al. |
| رقم الانضمام: |
edsbas.CECF24F8 |
| قاعدة البيانات: |
BASE |
