394delTT: a Nordic cystic fibrosis mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-02

AUTHORS

Marianne Schwartz, Maria Anvret, Mireille Claustres, Hans Geir Eiken, Kristin Eiklid, Charlotte Schaedel, Lisa Stolpe, Lisbeth Tranebjærg

ABSTRACT

In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation. More... »

PAGES

157-161

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00210602

DOI

http://dx.doi.org/10.1007/bf00210602

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004404019

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7509310


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