@article{1114e99ca6dd41b1ad4db1a838762772,
title = "Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene",
abstract = "The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestations of this mutation. N1303K, identified on 216 of nearly 15000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. The frequency of the N1303K allele varies significantly between countries and ethnic groups, being more common in Southern than in Northern Europe. This variation is independent of the AF508 allele. It was not found on UK Asian, American Black or Australian chromosomes. N1303K is associated with four different linked marker haplotypes for the polymorphic markers XV-2c, KM.19 and pMP6d-9. Ten patients are homozygous for this mutation, whereas 106 of the remainder carry one of 12 known CF mutations in the other CF allele. We classify N1303K as a {"}severe{"} mutation with respect to the pancreas, but can find no correlation between this mutation, in either the homozygous or heterozygous state, and the severity of lung disease.",
keywords = "NUCLEOTIDE-BINDING FOLD, FRAMESHIFT MUTATIONS, IDENTIFICATION, DELTA-F508, VARIANTS",
author = "L Osbourne and G Santis and M. Schwarz and K. Klinger and T. Dork and McIntosh, {Freda M.} and M. Schwartz and V. Nunes and {Macek Jr.}, M. and J. Reiss and {Highsmith Jr.}, {W. E.} and R MCMAHON and G. Novelli and N. Malik and J. Burgber and M. Anvret and A. Wallace and C. Williams and C. Mathew and R. Rozen and C. Graham and P. Gasparini and J. Bal and Cassiman, {J. J.} and A. Balassopoulou and L. Davidlow and S. Raskin and L. Kalaydijieva and B. Kerem and S. Richards and B. Simonbouy and M. Super and U. Wulbrand and M. Keston and X. Estivill and V. Vavrova and Friedman, {K. J.} and D. Barton and B. Dallapiccola and M. Stuhrmann and F. Beards and Hill, {A. J. M.} and Pignatti, {P. F.} and H. Cuppens and D. Angelicheva and B. Tummler and Brock, {D. J. H.} and T. Casals and M MACEK and J. Schmidtke and Magee, {A. C.} and A. Bonizzato and C. Deboeck and A. Kuffardjieva and M. Hodson and Knight, {R. A.}",
note = "Osbourne, L., Santis, G., Schwarz, M., Klinger, K., Dork, T., McIntosh, F. M., Schwartz, M., Nunes, V., Macek Jr., M., Reiss, J., Highsmith Jr., W. E., MCMAHON, R., Novelli, G., Malik, N., Burgber, J., Anvret, M., Wallace, A., Williams, C., Mathew, C., Rozen, R., Graham, C., Gasparini, P., Bal, J., Cassiman, J. J., Balassopoulou, A., Davidlow, L., Raskin, S., Kalaydijieva, L., Kerem, B., Richards, S., Simonbouy, B., Super, M., Wulbrand, U., Keston, M., Estivill, X., Vavrova, V., Friedman, K. J., Barton, D., Dallapiccola, B., Stuhrmann, M., Beards, F., Hill, A. J. M., Pignatti, P. F., Cuppens, H., Angelicheva, D., Tummler, B., Brock, D. J. H., Casals, T., MACEK, M., Schmidtke, J., Magee, A. C., Bonizzato, A., Deboeck, C., Kuffardjieva, A., Hodson, M. & Knight, R. A. (1992). Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Human Genetics, 89 (6), 653-658",
year = "1992",
month = aug,
day = "1",
doi = "10.1007/BF00221957",
language = "English",
volume = "89",
pages = "653--658",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Nature",
number = "6",
}