rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-8-23
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pubmed:abstractText |
Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant Peripheral Nerve Sheath Tumours (MPNSTs). Previous studies indicate that genetic factors other than mutations in NF1 may be responsible for the condition's variable expression.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20687928-10712197,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/20687928-9187663
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2407
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
407
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pubmed:meshHeading |
pubmed-meshheading:20687928-Adult,
pubmed-meshheading:20687928-Genotype,
pubmed-meshheading:20687928-Humans,
pubmed-meshheading:20687928-Lung Neoplasms,
pubmed-meshheading:20687928-Male,
pubmed-meshheading:20687928-Mutation,
pubmed-meshheading:20687928-Nerve Sheath Neoplasms,
pubmed-meshheading:20687928-Neurofibromatosis 1,
pubmed-meshheading:20687928-Neurofibromin 1,
pubmed-meshheading:20687928-Phenotype,
pubmed-meshheading:20687928-Polymerase Chain Reaction,
pubmed-meshheading:20687928-Prognosis,
pubmed-meshheading:20687928-Twins, Monozygotic
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pubmed:year |
2010
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pubmed:articleTitle |
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.
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pubmed:affiliation |
Unidad de Genética Molecular, Hospital Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria and Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Spain.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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