- Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye
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Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC
- KMID: 1130046
- J Korean Med Sci.
- 2003 Oct;18(5):727-732.
- doi: 10.3346/jkms.2003.18.5.727
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients... -
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- Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies
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Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB
- KMID: 1734068
- Yonsei Med J.
- 2005 Jun;46(3):347-352.
- doi: 10.3349/ymj.2005.46.3.347
The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion... -
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