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Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions: A Norrie Disease Case Study
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作者 Vasiliki Chini Danai Stambouli +4 位作者 Florina Mihaela Nedelea george alexandru filipescu Diana Mina Marios Kambouris Hatem El-Shanti 《Eye Science》 CAS 2014年第2期104-107,共4页
Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members..Mapping of the X chromosome and candidate gene muta... Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members..Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease..The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information..The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family. 展开更多
关键词 基因突变 临床诊断 基因定位 筛查 利用率 家庭成员 产前诊断 连锁遗传
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