Article
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
Annals of human genetics - 1 Mar 2010
Reish Orit, Slatkin Montgomery, Chapman-Shimshoni Daphne, Elizur Arnon, Chioza Barry, Castleman Victoria, Mitchison Hannah M
Abstract excerpt
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 analyse mutation segregation in the Israeli family, present the clinical disease spectrum, and estimate mutation age in the two families. Mutation segregation was studied by restriction fragment length analysis. Mutation...
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