Journal article
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT) 1
Genomics (San Diego, Calif.), v 10(1), pp 266-269
1991
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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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Details
- Title
- Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT) 1
- Creators
- Marga Belle White - National Cancer InstituteLeslie J. Krueger - Hanneman University, Philadelphia, Pennsylvania, USADouglas S. Holsclaw - Hanneman University, Philadelphia, Pennsylvania, USABernard C. Gerrard - Biological Carcinogenesis Development Program, Program Resources, Inc./DynCorp, FCRDC, Frederick, Maryland, USAClaudia Stewart - Biological Carcinogenesis Development Program, Program Resources, Inc./DynCorp, FCRDC, Frederick, Maryland, USALynne Quittell - Columbia University Irving Medical CenterGregory Dolganov - BIO (Canada)Vladislov Baranov - Institute of Obstetrics, Leningrad, USSRTatyana Ivaschenko - Institute of Obstetrics, Leningrad, USSRNicolai I. Kapronov - Capital Institute of PediatricsGianfranco Sebastio - University of Naples Federico IIOrnella Castiglione - University of Naples Federico IIMichael Dean - Biological Carcinogenesis Development Program, Program Resources, Inc./DynCorp, FCRDC, Frederick, Maryland, USA
- Publication Details
- Genomics (San Diego, Calif.), v 10(1), pp 266-269
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:A1991FK40800035
- Scopus ID
- 2-s2.0-0025855807
- Other Identifier
- 991019353621104721
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- Collaboration types
- Industry collaboration
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Biotechnology & Applied Microbiology
- Genetics & Heredity