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Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Gu H, Kim MJ, Yang D, Song JY, Cho SI, Park SS, Seong MW

Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and...
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Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Yum MS, Lee BH, Kim GH, Lee JJ, Choi SH, Lee JY, Kim JM, Kim YM, Ko TS, Yoo HW

PURPOSE: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of...
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Allele distribution of FMR1 gene in Korean women

Song KC, Kim GJ, Whang YJ, Choi SR, Lee SP, Whang BC, Lee ED

  • KMID: 2270288
  • Korean J Obstet Gynecol.
  • 2002 Jun;45(6):990-993.
OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of...
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