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...

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Detalles Bibliográficos
Autores principales: Choi, Jong Rak, Lee, Woon Hyoung, Sunwoo, Il Nam, Lee, Eun Kyung, Lee, Chang Hoon, Lim, Jong-Baeck
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2005
Materias:
Original Article
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

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