Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.

Author:

Liang M H,Wong L J,Klein D,Shapiro B,Bowman C M,Hsu E,Wong L J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis;Cremonesi, L.; Cainarca, S.; Rossi, A.; Padoan, R.; Ferrari, M.;Hum Genet,1996

2. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis;Pignatti, P.F.; Bombieri, C.; Marigo, C.; Benetazzo, M.; Luisetti, M.;Hum Mol Genet,1995

3. Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene;Mercier, B.; Lissens, W.; Novelli, G.;Genomics,1993

4. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions;Fanen, P.; Ghanem, N.; Vidaud, M.;Genomics,1992

5. Detection of over 98% cystic fibrosis mutations in a Celtic population;Ferec, C.; Audrezet, M.P.; Mercier, B.;Nat Genet,1992

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