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Shuber et al., 1993 - Google Patents

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

Shuber et al., 1993

Document ID
4817168557035325515
Author
Shuber A
Skoletsky J
Stern R
Handelin B
Publication year
Publication venue
Human molecular genetics

External Links

Snippet

The identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has led to the identification of more than 225 presumed disease-causing mutations at the locus. The diagnosis of cystic fibrosis or the carrier state by direct DNA analysis is hindered …
Continue reading at academic.oup.com (other versions)

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