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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1995-8-23
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pubmed:abstractText |
Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-1090886,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-1345170,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-14192062,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-17247100,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-1789284,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-2706105,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-4205901,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-7312460,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-7704031,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-7711738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-7951250,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-8136828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-8213834,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-8401493,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7616538-8401506
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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 |
May
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:geneSymbol |
DFNB1,
DFNB2,
DFNB3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
336-43
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7616538-Alleles,
pubmed-meshheading:7616538-Chromosome Mapping,
pubmed-meshheading:7616538-Chromosomes, Human, Pair 17,
pubmed-meshheading:7616538-DNA,
pubmed-meshheading:7616538-DNA Probes,
pubmed-meshheading:7616538-Deafness,
pubmed-meshheading:7616538-Female,
pubmed-meshheading:7616538-Gene Frequency,
pubmed-meshheading:7616538-Genes, Recessive,
pubmed-meshheading:7616538-Genetic Linkage,
pubmed-meshheading:7616538-Humans,
pubmed-meshheading:7616538-Incidence,
pubmed-meshheading:7616538-Indonesia,
pubmed-meshheading:7616538-Male,
pubmed-meshheading:7616538-Pedigree,
pubmed-meshheading:7616538-Phenotype,
pubmed-meshheading:7616538-Repetitive Sequences, Nucleic Acid
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pubmed:year |
1995
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pubmed:articleTitle |
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
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pubmed:affiliation |
Department of Microscopic Anatomy, Faculty of Medicine, Udayana University, Denpasar, Bali, Indonesia.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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