Article
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
European journal of medical genetics - 1 Jan 2000
Salomon Julie, Espinosa-Parrilla Yolanda, Goulet Olivier, Al-Qabandi Wafa'a, Guigue Philippe, Canioni Danielle, Bruneau Julie, Alzahrani Fatema, Almuhsen Saleh, Cerf-Bensussan Nadine, Jeanpierre Marc, Brousse Nicole, Lyonnet Stanislas, Munnich Arnold, Smahi Asma
Abstract excerpt
Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. Studying seven multiplex consanguineous families from the Arabic peninsula (Kuwait and Qatar) we found that most patients were homozygote for a c.498insC mutation in...
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