| Autor: |
Winata, S, Arhya, I N, Moeljopawiro, S, Hinnant, J T, Liang, Y, Friedman, T B, Asher, J H |
| Zdroj: |
Journal of Medical Genetics; May1995, Vol. 32 Issue 5, p336-343, 8p, 1 Diagram, 2 Charts, 1 Graph |
| Abstrakt: |
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. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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