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A Family Harboring CMT1A Duplication and HNPP Deletion
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p...
Autores principales: | Lee, Jung Hwa, Kang, Hee Jin, Song, Hyunseok, Hwang, Su Jin, Cho, Sun-Young, Kim, Sang-Beom, Kim, Joonki, Chung, Ki Wha, Choi, Byung-Ok |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Korean Neurological Association
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686856/ https://www.ncbi.nlm.nih.gov/pubmed/19513300 http://dx.doi.org/10.3988/jcn.2007.3.2.101 |
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