Article
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2009
Reish Orit, Borochowitz Zvi U, Adir Vardit, Shohat Mordechai, Karpati Mazal, Shtorch Atalia, Orr-Urtreger Avi, Yaron Yuval, Shalev Stavit, Fares Fuad, Gershoni-Baruch Ruth, Falik-Zaccai Tzipora C, Chapman-Shimshoni Daphne
Abstract excerpt
PURPOSE: A retrospective population study was conducted to determine the carrier frequencies of recently identified mutations in Oriental Jewish cystic fibrosis patients. METHODS: Data were collected from 10 medical centers that screened the following mutations: two splice site mutations-3121-1G>A and 2751 + 1insT-and one nonsense mutation-the Y1092X in Iraqi Jews. One missense mutation, I1234V, was screened in...
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