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rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0085114,
umls-concept:C0162678,
umls-concept:C0205314,
umls-concept:C0332307,
umls-concept:C0679622,
umls-concept:C0684224,
umls-concept:C1521991,
umls-concept:C1556095,
umls-concept:C1880022
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pubmed:issue |
2
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pubmed:dateCreated |
2010-5-6
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pubmed:abstractText |
Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment.
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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 |
Apr
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pubmed:issn |
1598-6535
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pubmed:author |
pubmed-author:ChoSung ImSI,
pubmed-author:JungHee WonHW,
pubmed-author:KimDong GyuDG,
pubmed-author:KimJi YeonJY,
pubmed-author:KimSeung KiSK,
pubmed-author:KimSo YeonSY,
pubmed-author:PaekSun HaSH,
pubmed-author:ParkChul KeeCK,
pubmed-author:ParkHyunwoongH,
pubmed-author:ParkSung SupSS,
pubmed-author:SeongMoon WooMW,
pubmed-author:YeoIm KyungIK
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pubmed:issnType |
Print
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
190-4
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pubmed:meshHeading |
pubmed-meshheading:20445339-3' Flanking Region,
pubmed-meshheading:20445339-5' Flanking Region,
pubmed-meshheading:20445339-Adult,
pubmed-meshheading:20445339-Aged,
pubmed-meshheading:20445339-Amino Acid Sequence,
pubmed-meshheading:20445339-Asian Continental Ancestry Group,
pubmed-meshheading:20445339-Child, Preschool,
pubmed-meshheading:20445339-Exons,
pubmed-meshheading:20445339-Female,
pubmed-meshheading:20445339-Frameshift Mutation,
pubmed-meshheading:20445339-Genes, Neurofibromatosis 2,
pubmed-meshheading:20445339-Humans,
pubmed-meshheading:20445339-Male,
pubmed-meshheading:20445339-Middle Aged,
pubmed-meshheading:20445339-Molecular Sequence Data,
pubmed-meshheading:20445339-Mutation,
pubmed-meshheading:20445339-Mutation, Missense,
pubmed-meshheading:20445339-Neurofibromatosis 2,
pubmed-meshheading:20445339-RNA Splice Sites,
pubmed-meshheading:20445339-Republic of Korea,
pubmed-meshheading:20445339-Sequence Analysis, DNA,
pubmed-meshheading:20445339-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
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pubmed:affiliation |
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
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pubmed:publicationType |
Journal Article
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