Late CF caused by homozygous IVS8-5T CFTR polymorphism
نویسندگان
چکیده
منابع مشابه
Lung disease associated with the IVS8 5T allele of the CFTR gene.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients w...
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ژورنال
عنوان ژورنال: Thorax
سال: 2005
ISSN: 0040-6376
DOI: 10.1136/thx.2005.048207