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J. C. Chang et Y. W. Kan, « beta 0 thalassemia, a nonsense mutation in man », Proceedings of the National Academy of Sciences of the United States of America, vol. 76, , p. 2886–2889 (ISSN0027-8424, PMID88735, PMCID383714, lire en ligne, consulté le )
A. Hamosh, T. M. King, B. J. Rosenstein et M. Corey, « Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus », American Journal of Human Genetics, vol. 51, , p. 245–250 (ISSN0002-9297, PMID1379413, PMCID1682672, lire en ligne, consulté le )
V. M. Ingram, « A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin », Nature, vol. 178, , p. 792–794 (ISSN0028-0836, PMID13369537, lire en ligne, consulté le )
J. C. Chang et Y. W. Kan, « beta 0 thalassemia, a nonsense mutation in man », Proceedings of the National Academy of Sciences of the United States of America, vol. 76, , p. 2886–2889 (ISSN0027-8424, PMID88735, PMCID383714, lire en ligne, consulté le )
A. Hamosh, T. M. King, B. J. Rosenstein et M. Corey, « Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus », American Journal of Human Genetics, vol. 51, , p. 245–250 (ISSN0002-9297, PMID1379413, PMCID1682672, lire en ligne, consulté le )