Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of <em>CHM</em> variant in choroideremia
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چکیده
منابع مشابه
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). ...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2017
ISSN: 1178-704X
DOI: 10.2147/tacg.s144383