A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

Author:

Cuppens H,Marynen P,Berghe H V. d.,Cassiman J J,Boeck C D.,Eggermont E,Baets F D.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Identification of the cystic fibrosis gene: chromosome walking and jumping;Rommens, J.M.; lannuzzi MC; Kerem, B.-S.;Science,1989

2. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA;Riordan, JR, Rommens; JM, Kerem; B.-S.;Science,1989

3. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: non-essential part of the gene. The G542X mutation, however, creates a stop codon at amino acid 542;Kerem, B.-S.; Rommens, J.M.; Buchanan, J.A.

4. Association between XV2c/CS7/LMl9/D9 haplotypes and the AF508 mutation. A study of 57 Belgian families;Cuppens, H.; Legius, E.; Cabello, P.

5. A frame-shift mutation in the cystic fibrosis gene;White, M.B.; Amos, J.; Hsu, J.M.C.;Nature,1990

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