| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2135170 | Experimental Hematology | 2006 | 5 Pages |
Abstract
This is the first report of compound heterozygous missense mutations occurring in patients with SDS. These mutations may not eliminate SBDS expression but may result in impaired protein stability and protein function leading to severe disease.
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Authors
Melinda ErdÅs, Krisztina Alapi, István Balogh, György Oroszlán, Ãva Rákóczi, János Sümegi, László Maródi,