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• W1569889290 abstract "Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with clinical manifestations consistent with CF were studied by temporal temperature gradient electrophoresis and/or DNA sequencing. A total of 183 mutations were identified, including 14 different amino acid-changing novel variants. A significant proportion (78/85) of the different mutations identified would not have been detected by the ACMG/ACOG-recommended 25-mutation screening panel. Over one third of the mutations (27/85) occurred with a relative frequency >1%, which illustrates that the identified mutations are not all rare. This is supported by a comparison with other large CFTR studies. These results underscore the disparity in mutation identification between Caucasians and Hispanics and show utility for comprehensive diagnostic CFTR mutation analysis in this population." @default.
• W1569889290 created "2016-06-24" @default.
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• W1569889290 date "2005-05-01" @default.
• W1569889290 modified "2023-10-01" @default.
• W1569889290 title "Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics" @default.
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• W1569889290 doi "https://doi.org/10.1016/s1525-1578(10)60557-0" @default.
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