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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1990 | 1 |
1991 | 2 |
1992 | 1 |
2024 | 0 |
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Page 1
A cystic fibrosis patient homozygous for the nonsense mutation R553X.
J Med Genet. 1991 Oct;28(10):715-7. doi: 10.1136/jmg.28.10.715.
J Med Genet. 1991.
PMID: 1682496
Free PMC article.
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH Jr, Antonarakis SE.
Cutting GR, et al.
N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.
N Engl J Med. 1990.
PMID: 2233965
Free article.
No abstract available.
Item in Clipboard
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR.
Hamosh A, et al.
J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510.
J Clin Invest. 1991.
PMID: 1721624
Free PMC article.
Item in Clipboard
Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
Cheadle J, al-Jader L, Goodchild M, Meredith AL.
Cheadle J, et al.
J Med Genet. 1992 Aug;29(8):597. doi: 10.1136/jmg.29.8.597.
J Med Genet. 1992.
PMID: 1518030
Free PMC article.
No abstract available.
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