Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

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Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

Hum Mutat. 1995;6(2):190-1.

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7581407 [ View in PubMed
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Polypeptides
NameUniProt ID
Cystic fibrosis transmembrane conductance regulatorP13569Details