Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference20 articles.
Cited by 32 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08
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3. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies;Journal of Neurochemistry;2017-11-07
4. COLD-HRM: A Combination of Methods to Infer the Nature of Somatic Mutations;Advances in Cytology & Pathology;2017-03-07
5. Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?;Surgical Pathology Clinics;2016-06
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