𝔖 Bobbio Scriptorium
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Two cystic fibrosis patients with the genotype G542X/G551D

✍ Scribed by J. Reiss; U. Ellermeyer; M. Schloesser; W. Fuhrmann; D. Drews; H. G. Posselt

Book ID
104674056
Publisher
Springer
Year
1993
Tongue
English
Weight
174 KB
Volume
91
Category
Article
ISSN
0340-6717

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In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the enco