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.

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 with duplication of the PMP22 develop Charcot-Marie-Tooth disease type 1A (CMT1A) and dele...

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Autores principales: Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Lee, Tae-Mi, Koo, Soo Kyung, Lee, Yong-Jun, Jung, Sung-Chul
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2003
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055122/
https://www.ncbi.nlm.nih.gov/pubmed/14555828

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