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N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis

✍ Scribed by Kim Van Hoorenbeeck; Katrien Storm; Jenneke van den Ende; Martine Biervliet; Kristine N. Desager


Book ID
119288522
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
183 KB
Volume
6
Category
Article
ISSN
1569-1993

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The CFTR intron 8 variable length polythymidine tract modulates the cystic fibrosis (CF) phenotype associated with the mutation R117H. To explore whether other mutations reside on multiple intron 8 backgrounds with discernible impacts on phenotype, we developed an allele-specific PCR assay to charac