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Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

✍ Scribed by Rita Padoan; Carlo Corbetta; Alessandra Bassotti; Manuela Seia


Book ID
114814854
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
47 KB
Volume
95
Category
Article
ISSN
0803-5253

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## Communicated by Lap-Chee Tsui German cystic fibrosis (CF) chromosomes were screened for molecular lesions in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by chemical cleavage of mismatch. An 3884G-to-A transition was detected in two patients which leads to an e