The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and...

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Main Authors: Jeong, Seon-Yong, Park, Sang-Jin, Kim, Hyon J.
Formato: Artigo
Idioma:Inglês
Publicado: The Korean Academy of Medical Sciences 2006
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2733956/
https://ncbi.nlm.nih.gov/pubmed/16479075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2006.21.1.107
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