| dc.creator |
HU, GF |
|
| dc.creator |
YILMAZ, E |
|
| dc.creator |
Yildirim, Mehmet |
|
| dc.creator |
YEREBAKAN, O |
|
| dc.creator |
SERHAT INALOZ, H |
|
| dc.creator |
MARTINEZ-MIR, A |
|
| dc.creator |
CELEBI, JT |
|
| dc.creator |
CHRISTIANO, AM |
|
| dc.creator |
BAYSAL, V |
|
| dc.date |
2003-05-31T21:00:00Z |
|
| dc.date.accessioned |
2020-10-06T11:22:25Z |
|
| dc.date.available |
2020-10-06T11:22:25Z |
|
| dc.identifier |
c1acbcdb-170b-41f4-87a1-2d780dbc5a49 |
|
| dc.identifier |
10.1046/j.1523-1747.2003.12248.x |
|
| dc.identifier |
https://avesis.sdu.edu.tr/publication/details/c1acbcdb-170b-41f4-87a1-2d780dbc5a49/oai |
|
| dc.identifier.uri |
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/71194 |
|
| dc.description |
Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect. |
|
| dc.language |
eng |
|
| dc.rights |
info:eu-repo/semantics/closedAccess |
|
| dc.title |
A recurrent mutation in the ARS (Component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: Evidence of a founder effect |
|
| dc.type |
info:eu-repo/semantics/article |
|