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Novel mutations in patients with retinitis pigmentosa detected by Whole Exome Sequencing
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چکیده: (185 مشاهده) |
Background
Retinitis pigmentosa is a heterogeneous genetic disorder with progressive degeneration of the retina leading to a progressive visual loss.
Objectives
The aim of this study was to identify the probable genetic cause of retinitis pigmentosa in 4 unrelated patients.
Methods
Whole exome sequencing was used to investigate the mutations.
Results
We found different variants in RP1L1, AIPL1, EYS and CRB1 genes including three novel and two previously reported mutations.
Conclusions
Since the disease has clinical and genetic heterogeneity, whole exome sequencing is the recommended method to find the disease causing mutations.
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متن کامل [PDF 751 kb]
(37 دریافت)
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نوع مطالعه: پژوهشي |
موضوع مقاله:
عمومى
دریافت: 1401/11/9 | پذیرش: 1401/11/30 | انتشار: 1401/11/30
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