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Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families
A rare mutation in the RSPH9 gene leading to Primary Ciliary Dyskinesia was previously identified in two Bedouin families, one from Israel and one from the United Arab Emirates (UAE). Herein we analyze mutation segregation in the Israeli family, present the clinical disease spectrum, and estimate mu...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2853723/ https://ncbi.nlm.nih.gov/pubmed/20070851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2009.00559.x |
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