A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
Open Access
- 1 May 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (5) , 369-370
- https://doi.org/10.1136/jmg.31.5.369
Abstract
We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.Keywords
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