Genomics. 1991 May;10(1):266-9.

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov NI, et al.

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Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.

Abstract

We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.

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Two frameshift mutations in the cystic fibrosis gene. [Am J Hum Genet. 1991]
Two frameshift mutations in the cystic fibrosis gene.
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Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J. J Clin Invest. 1994 Apr; 93(4):1852-9.
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Cystic fibrosis carrier frequencies in populations of African origin. [J Med Genet. 1999]
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Padoa C, Goldman A, Jenkins T, Ramsay M. J Med Genet. 1999 Jan; 36(1):41-4.
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Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

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