@article{3045136,
    title = "INCIDENCE AND EXPRESSION OF THE N1303K MUTATION OF THE CYSTIC-FIBROSIS
(CFTR) GENE",
    author = "OSBORNE, L and SANTIS, G and SCHWARZ, M and KLINGER, K and DORK, T and and MCINTOSH, I and SCHWARTZ, M and NUNES, V and MACEK, M and REISS, J and and HIGHSMITH, WE and MCMAHON, R and NOVELLI, G and MALIK, N and BURGER, J and and ANVRET, M and WALLACE, A and WILLIAMS, C and MATHEW, C and ROZEN, R and and GRAHAM, C and GASPARINI, P and BAL, J and CASSIMAN, JJ and and BALASSOPOULOU, A and DAVIDOW, L and RASKIN, S and KALAYDJIEVA, L and and KEREM, B and RICHARDS, S and SIMONBOUY, B and SUPER, M and WULBRAND, U and and KESTON, M and ESTIVILL, X and VAVROVA, V and FRIEDMAN, KJ and and BARTON, D and DALLAPICCOLA, B and STUHRMANN, M and BEARDS, F and HILL, and AJM and PIGNATTI, PF and CUPPENS, H and ANGELICHEVA, D and TUMMLER, B and and BROCK, DJH and CASALS, T and MACEK, M and SCHMIDTKE, J and MAGEE, AC and and BONIZZATO, A and DEBOECK, C and KUFFARDJIEVA, A and HODSON, M and and KNIGHT, RA",
    journal = "Human Genetics",
    year = "1992",
    volume = "89",
    number = "6",
    pages = "653-658",
    publisher = "Springer-Verlag",
    issn = "0340-6717, 1432-1203",
    doi = "10.1007/BF00221957",
    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 DELTA-F508 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."
}