|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0030705,
umls-concept:C0152035,
umls-concept:C0337112,
umls-concept:C0439831,
umls-concept:C0596611,
umls-concept:C1335439,
umls-concept:C1384666,
umls-concept:C1444754,
umls-concept:C1511790,
umls-concept:C1521990,
umls-concept:C1524075,
umls-concept:C1708096,
umls-concept:C1882417,
umls-concept:C2677304
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|
pubmed:issue |
5
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|
pubmed:dateCreated |
2009-10-6
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|
pubmed:abstractText |
To develop a rapid genetic diagnosis technique for the patients with hereditary hearing loss by screening hot spots of mutations, namely 235delC of the GJB2 gene, IVS7-2A>G of the SLC26A4 gene, and 1555A>G of mitochondrial 12S rRNA.
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pubmed:language |
chi
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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|
pubmed:issn |
1003-9406
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
26
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
518-20
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pubmed:meshHeading |
pubmed-meshheading:19806571-Adolescent,
pubmed-meshheading:19806571-Adult,
pubmed-meshheading:19806571-Asian Continental Ancestry Group,
pubmed-meshheading:19806571-Child,
pubmed-meshheading:19806571-Child, Preschool,
pubmed-meshheading:19806571-Connexins,
pubmed-meshheading:19806571-Female,
pubmed-meshheading:19806571-Hearing Loss,
pubmed-meshheading:19806571-Humans,
pubmed-meshheading:19806571-Male,
pubmed-meshheading:19806571-Membrane Transport Proteins,
pubmed-meshheading:19806571-Mutation,
pubmed-meshheading:19806571-Polymerase Chain Reaction,
pubmed-meshheading:19806571-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:19806571-Young Adult
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|
pubmed:year |
2009
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|
pubmed:articleTitle |
[Rapid detection of the hot spot gene mutations in Chinese patients with nonsyndromic hearing loss by polymerase chain reaction-restrictive fragment length polymorphism].
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pubmed:affiliation |
National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, PR China.
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't,
Evaluation Studies
|
