394delTT: a Nordic cystic fibrosis mutation
✍ Scribed by Marianne Schwartz; Maria Anvret; Mireille Claustres; Hans Geir Eiken; Kristin Eiklid; Charlotte Schaedel; Lisa Stolpe; Lisbeth Tranebjærg
- Book ID
- 104666143
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 624 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
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## Abstract Terms to be familiar with before you start to solve the test: cystic fibrosis, pedigree analysis, transmembrane protein, channel protein, polymerase chain reaction, primers, polyacrylamide gel electrophoresis, fluorescent DNA staining, autosomal vs. sex‐linked inheritance, recessive vs.
We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested pre-natal diagnosis in a future pregnancy. The AF508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and