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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

✍ Scribed by Cutting, Garry R.; Kasch, Laura M.; Rosenstein, Beryl J.; Zielenski, Julian; Tsui, Lap-Chee; Antonarakis, Stylianos E.; Kazazian Jr, Haig H.


Book ID
109764340
Publisher
Nature Publishing Group
Year
1990
Tongue
English
Weight
469 KB
Volume
346
Category
Article
ISSN
0028-0836

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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