Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

Cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsible, when mutated, for cystic fibrosis (CF), spans over 230 kb on the long arm of chromosome 7 and is composed of 27 exons (2, 4, 5). The most common mutation responsible for CF worldwide is the deletion of a phenylalanine...

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Veröffentlicht in:Genomics (San Diego, Calif.) Calif.), 1993-04, Vol.16 (1), p.296-297
Hauptverfasser: Mercier, B., Lissens, W., Novelli, G., Kalaydjieva, L., De Arce, M., Kapranov, N., Klain, N.Canki, Lenoir, G., Chauveau, P., Lenaerts, C., Rault, G., Cashman, S., Sangiuolo, F., Audrézet, M.P., Dallapiccola, B., Guillermit, H., Bonduelle, M., Liebaers, I., Quéré, I., Verlingue, C., Férec, C.
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Sprache:eng
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