- Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene
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Park Y, Kim J, Choi JR, Song J, Chung JS, Lee KA
- KMID: 1781571
- Korean J Lab Med.
- 2008 Oct;28(5):386-391.
- doi: 10.3343/kjlm.2008.28.5.386
BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness... -
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- Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis
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Shin SY, Kim HY, Kim HJ, Kim HG
- KMID: 2419129
- Yonsei Med J.
- 2017 May;58(3):665-667.
- doi: 10.3349/ymj.2017.58.3.665
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with... -
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