| Autor: |
Van Hauwe, Peter, Everett, Lorraine A., Coucke, Paul, Scott, Daryl A., Kraft, Michelle L., Ris‐Stalpers, Carrie, Bolder, Cuny, Otten, Barto, de Vijlder, Jan J.M., Dietrich, Nicole L., Ramesh, Arabandi, Srisailapathy, Srikumari C. R., Parving, Agnete, Cremers, Cor W. R. J., Willems, Patrick J., Smith, Richard J. H., Green, Eric D., Van Camp, Guy |
| Zdroj: |
Human Molecular Genetics; Jul98, Vol. 7 Issue 7, p1099, 6p |
| Abstrakt: |
Identifies a spectrum of mutations in the gene responsible for Pendred syndrome, PDS, in 14 anamnestically unrelated Pendred families. Characteristics of Pendred syndrome; Three frameshift mutations involved in the 14 mutations; Use of a haplotype analysis to reveal a partial shared haplotype between families of each group; Origins of the families carrying the frequent mutations. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
