A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
AUTOR(ES)
Chillón, M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049867Documentos Relacionados
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