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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2008-6-3
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pubmed:abstractText |
Schwannomatosis is a rare condition characterised by multiple schwannomas and lack of involvement of the vestibular nerve. A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis. We aimed to establish the contribution of the SMARCB1 and the NF2 genes to sporadic and familial schwannomatosis in our cohort.
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pubmed:grant |
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pubmed:commentsCorrections |
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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:month |
Jun
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
332-9
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pubmed:dateRevised |
2009-1-8
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pubmed:meshHeading |
pubmed-meshheading:18285426-Adolescent,
pubmed-meshheading:18285426-Adult,
pubmed-meshheading:18285426-Amino Acid Sequence,
pubmed-meshheading:18285426-Base Sequence,
pubmed-meshheading:18285426-Child,
pubmed-meshheading:18285426-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:18285426-DNA Mutational Analysis,
pubmed-meshheading:18285426-DNA-Binding Proteins,
pubmed-meshheading:18285426-Female,
pubmed-meshheading:18285426-Humans,
pubmed-meshheading:18285426-Male,
pubmed-meshheading:18285426-Middle Aged,
pubmed-meshheading:18285426-Molecular Sequence Data,
pubmed-meshheading:18285426-Mutation,
pubmed-meshheading:18285426-Neurilemmoma,
pubmed-meshheading:18285426-Neurofibromin 2,
pubmed-meshheading:18285426-Pedigree,
pubmed-meshheading:18285426-Phenotype,
pubmed-meshheading:18285426-Sequence Alignment,
pubmed-meshheading:18285426-Transcription Factors
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pubmed:year |
2008
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pubmed:articleTitle |
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.
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pubmed:affiliation |
Academic Unit of Medical Genetics, University of Manchester and Regional Genetics Service, Manchester, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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