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Spectrum of mutatio...
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
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- Strandvik, Birgitta, 1938 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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- Björck, Eva (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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Fallström, M (author)
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- Gronowitz, Eva, 1956 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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Thountzouris, J (author)
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- Lindblad, Anders, 1955 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
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Markiewicz, D (author)
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Wahlström, Jens, 1972 (author)
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Tsui, L C (author)
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Zielenski, J (author)
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(creator_code:org_t)
- Mary Ann Liebert Inc, 2001
- 2001
- English.
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In: Genetic testing. - : Mary Ann Liebert Inc. - 1090-6576 .- 1557-7473. ; 5:3, s. 235-42
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant DeltaF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Adult
- Child
- Preschool
- Codon
- Nonsense
- Cystic Fibrosis
- genetics
- physiopathology
- Cystic Fibrosis Transmembrane Conductance Regulator
- genetics
- DNA
- blood
- DNA Mutational Analysis
- Frameshift Mutation
- Genetic Heterogeneity
- Genotype
- Humans
- Infant
- Mutation
- Mutation
- Missense
- Phenotype
- Sweden
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Strandvik, Birgi ...
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Björck, Eva
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Fallström, M
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Gronowitz, Eva, ...
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Thountzouris, J
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Lindblad, Anders ...
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show more...
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Markiewicz, D
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Wahlström, Jens, ...
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Tsui, L C
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Zielenski, J
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Genetic testing
- By the university
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University of Gothenburg