| Autor: |
Hamlington JD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore 21287-4922, USA., Clough MV, Dunston JA, McIntosh I |
| Jazyk: |
angličtina |
| Zdroj: |
European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Apr; Vol. 8 (4), pp. 311-4. |
| DOI: |
10.1038/sj.ejhg.5200448 |
| Abstrakt: |
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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