A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew - PubMed (original) (raw)
Case Reports
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew
H Cuppens et al. J Med Genet. 1990 Nov.
Abstract
The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.
Comment in
- Cystic fibrosis in Bulgaria.
Kalaydjieva L, Angelicheva D, Galeva I, Lalov V, Konstantinova D. Kalaydjieva L, et al. J Med Genet. 1991 Nov;28(11):807. doi: 10.1136/jmg.28.11.807. J Med Genet. 1991. PMID: 1770543 Free PMC article. No abstract available.
Similar articles
- A cystic fibrosis patient homozygous for the nonsense mutation R553X.
Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J. Bal J, et al. 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. - Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
Parad RB. Parad RB. J Med Genet. 1996 Aug;33(8):711-3. doi: 10.1136/jmg.33.8.711. J Med Genet. 1996. PMID: 8863168 Free PMC article. - A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J. Will K, et al. J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172. J Clin Invest. 1994. PMID: 7512993 Free PMC article. - [Detection of delta F508 mutation in cystic fibrosis].
Fekete G, Váradi A, Pipiras E, Németh K, Réthy LA, Holics K, Ujhelyi R. Fekete G, et al. Orv Hetil. 1992 Sep 20;133(38):2423-4, 2427-30. Orv Hetil. 1992. PMID: 1408077 Review. Hungarian.
Cited by
- An Overview on the Upper and Lower Airway Microbiome in Cystic Fibrosis Patients.
Meskini M, Siadat SD, Seifi S, Movafagh A, Sheikhpour M. Meskini M, et al. Tanaffos. 2021 Feb;20(2):86-98. Tanaffos. 2021. PMID: 34976079 Free PMC article. Review. - Ribosomal mistranslation leads to silencing of the unfolded protein response and increased mitochondrial biogenesis.
Shcherbakov D, Teo Y, Boukari H, Cortes-Sanchon A, Mantovani M, Osinnii I, Moore J, Juskeviciene R, Brilkova M, Duscha S, Kumar HS, Laczko E, Rehrauer H, Westhof E, Akbergenov R, Böttger EC. Shcherbakov D, et al. Commun Biol. 2019 Oct 17;2:381. doi: 10.1038/s42003-019-0626-9. eCollection 2019. Commun Biol. 2019. PMID: 31637312 Free PMC article. - Update and Review: Cystic Fibrosis.
Brown T, Schwind EL. Brown T, et al. J Genet Couns. 1999 Jun;8(3):137-62. doi: 10.1023/A:1022853822424. J Genet Couns. 1999. PMID: 26142108 - Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.
Fungtammasan A, Ananda G, Hile SE, Su MS, Sun C, Harris R, Medvedev P, Eckert K, Makova KD. Fungtammasan A, et al. Genome Res. 2015 May;25(5):736-49. doi: 10.1101/gr.185892.114. Epub 2015 Mar 30. Genome Res. 2015. PMID: 25823460 Free PMC article. - P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
Gilfillan A, Warner JP, Kirk JM, Marshall T, Greening A, Ho LP, Hargreave T, Stack B, McIntyre D, Davidson R, Dean JC, Middleton W, Brock DJ. Gilfillan A, et al. J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122. J Med Genet. 1998. PMID: 9507391 Free PMC article.
References
- Science. 1989 Sep 8;245(4922):1059-65 - PubMed
- Science. 1989 Sep 8;245(4922):1066-73 - PubMed
- Science. 1989 Sep 8;245(4922):1073-80 - PubMed
- Nature. 1990 Apr 12;344(6267):665-7 - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical