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Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide‐binding fold of CFTR
Author(s) -
Dörk Thilo,
Wulbrand Ulrich,
Steinkamp Gratiana,
Tümmler Burkhard
Publication year - 1992
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1992.tb12086.x
Subject(s) - cystic fibrosis , cystic fibrosis transmembrane conductance regulator , medicine , missense mutation , heterozygote advantage , loss of heterozygosity , mutation , compound heterozygosity , genetics , gene , genotype , pathology , cancer research , biology , allele
The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551→Asp and Arg553→Stop in the cystic fibrosis transmembrane conductance regulator gene. The missense mutation Arg 553→Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry.