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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2001-9-11
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pubmed:abstractText |
Mutations in the gene encoding connexin-26 (specified GJB2) have been shown to be a major cause of nonsyndromic recessive deafness (NSRD), and a single mutation 35delG in the GJB2 gene accounts for the majority of cases of NSRD. This mutation was screened in France and in other European populations by a reliable PCR method. We present here a meta-analysis of the 35delG frequencies in 4123 random controls from 20 European countries, and show that the mutation is more frequent in the south of Europe than in the north; a north-south increasing cline of 35delG frequencies is established (r = -0.527).
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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:issn |
1090-6576
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
149-52
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pubmed:dateRevised |
2006-3-28
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pubmed:meshHeading |
pubmed-meshheading:11551104-Adult,
pubmed-meshheading:11551104-Age of Onset,
pubmed-meshheading:11551104-Alleles,
pubmed-meshheading:11551104-Amino Acid Substitution,
pubmed-meshheading:11551104-Cluster Analysis,
pubmed-meshheading:11551104-Connexins,
pubmed-meshheading:11551104-DNA Mutational Analysis,
pubmed-meshheading:11551104-Deafness,
pubmed-meshheading:11551104-Europe,
pubmed-meshheading:11551104-France,
pubmed-meshheading:11551104-Gene Frequency,
pubmed-meshheading:11551104-Genotype,
pubmed-meshheading:11551104-Humans,
pubmed-meshheading:11551104-Infant, Newborn,
pubmed-meshheading:11551104-Mediterranean Region,
pubmed-meshheading:11551104-Neonatal Screening,
pubmed-meshheading:11551104-Polymerase Chain Reaction,
pubmed-meshheading:11551104-Prevalence,
pubmed-meshheading:11551104-Sequence Deletion
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pubmed:year |
2001
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pubmed:articleTitle |
Meta-analysis of GJB2 mutation 35delG frequencies in Europe.
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pubmed:affiliation |
International Institute of Anthropology, Paris, France. lucotte@hotmail.com
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pubmed:publicationType |
Journal Article,
Meta-Analysis
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