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Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1.

Neurofibromatos is type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. The NF-1 gene has been cloned and mapped to human chromosome 17q11.2. The NF-1 gene has an open reading frame that predicts a protein...

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Detalhes bibliográficos
Main Authors: Park, K. C., Choi, H. O., Han, W. S., Hwang, J. H., Park, K. H., Kim, K. H., Chung, J. H., Eun, H. C.
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Academy of Medical Sciences 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3054687/
https://ncbi.nlm.nih.gov/pubmed/11068991
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