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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2008-2-22
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pubmed:abstractText |
Mutation analysis with direct DNA sequencing is commonly used for the molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1). However, a significant number of patients, despite clinical features of MEN1, do not show MEN1 mutations on direct DNA sequencing. Some of these patients may have gross gene deletions not detected by direct DNA sequencing or mutations in the noncoding regions of the gene not examined routinely.
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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 |
Mar
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pubmed:issn |
1365-2265
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
350-4
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pubmed:meshHeading |
pubmed-meshheading:17854391-Adult,
pubmed-meshheading:17854391-Aged,
pubmed-meshheading:17854391-Aged, 80 and over,
pubmed-meshheading:17854391-Exons,
pubmed-meshheading:17854391-Female,
pubmed-meshheading:17854391-Gene Deletion,
pubmed-meshheading:17854391-Humans,
pubmed-meshheading:17854391-Male,
pubmed-meshheading:17854391-Middle Aged,
pubmed-meshheading:17854391-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:17854391-Promoter Regions, Genetic,
pubmed-meshheading:17854391-Proto-Oncogene Proteins,
pubmed-meshheading:17854391-Young Adult
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pubmed:year |
2008
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pubmed:articleTitle |
Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1.
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pubmed:affiliation |
Department of Molecular Genetics, Royal Devon and Exeter Hospital, Peninsula Medical School, Exeter, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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