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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
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 of peripheral myelin protein 22 gene (PMP22) on 17p11.2. Southern blots, pulsed-field gel electrophor...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2005
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815810/ https://www.ncbi.nlm.nih.gov/pubmed/15988805 http://dx.doi.org/10.3349/ymj.2005.46.3.347 |