Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.

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Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.

Hum Mutat. 1998;Suppl 1:S78-80.

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9452048 [ View in PubMed
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Polypeptides
NameUniProt ID
Cystic fibrosis transmembrane conductance regulatorP13569Details