The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype
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چکیده
منابع مشابه
The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.
Most cystic fibrosis (CF) transmembrane receptor mutations are rare. The French CF Registry offers an opportunity to study the genotype-phenotype relationship of these rare alleles. Since 1992, 39 CF patients carrying one copy of the 3849+10kbC->T mutation and 88 the 2789+5G->A allele have been seen at least once in a CF care centre. Among them, 16 carrying the 3849+10kbC->T/Delta F508 genotype...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2005
ISSN: 0903-1936,1399-3003
DOI: 10.1183/09031936.05.10100004