Nature

Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies

To compare the sensitivity of the mutation detection techniques single-strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA), we analyzed a cohort of 73 patients with a ...
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Limitations of Single-Strand Conformation Polymorphism Analysis As a High-Throughput Method for the Detection of EGFR Mutations in the Clinical Setting

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Nature

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. A reliable genotype–phenotype correlation ...