German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. Direct sequencing of four samples that display
The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy
✍ Scribed by Milan Macek Jr.; Milan Macek; Manfred Stuhrmann; Eduard Kulovany; Marie Dolanská; František Koukolík; Ingolf Boehm; Jana Hronková; Zdeňka Ježková; Magdalena Paulová; Hana Martanová; Jiří Zach; André Reis; Karl Sperling; Jörg Schmidtke
- Book ID
- 115090171
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 293 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0009-9163
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The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which
A novel nonsense mutation, S434X,
The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f