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rdf:type |
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lifeskim:mentions |
umls-concept:C0017262,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0163742,
umls-concept:C0185117,
umls-concept:C0205314,
umls-concept:C0332294,
umls-concept:C0449774,
umls-concept:C0679622,
umls-concept:C1846647,
umls-concept:C2911684
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pubmed:issue |
3
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pubmed:dateCreated |
2010-6-10
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pubmed:abstractText |
To report a novel deafness-causing mutation c.465T>A, p.Y155X in connexin 26 (CX26) (also called gap junction protein beta-2, GJB2), and perform functional analysis of the mutated protein p.Y155X in Hela cells to explore the underlying mechanism on deafness.
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pubmed:language |
chi
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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 |
1003-9406
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
241-5
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pubmed:meshHeading |
pubmed-meshheading:20533257-Amino Acid Sequence,
pubmed-meshheading:20533257-Child,
pubmed-meshheading:20533257-Codon, Nonsense,
pubmed-meshheading:20533257-Connexins,
pubmed-meshheading:20533257-DNA Mutational Analysis,
pubmed-meshheading:20533257-Deafness,
pubmed-meshheading:20533257-Female,
pubmed-meshheading:20533257-HeLa Cells,
pubmed-meshheading:20533257-Humans,
pubmed-meshheading:20533257-Male,
pubmed-meshheading:20533257-Molecular Sequence Data,
pubmed-meshheading:20533257-Pedigree,
pubmed-meshheading:20533257-Sequence Homology, Amino Acid
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pubmed:year |
2010
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pubmed:articleTitle |
[Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness].
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pubmed:affiliation |
Department of Otolaryngology-Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China.
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
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