A cystic fibrosis patient homozygous for the nonsense mutation R553X. Issue 10 (October 1991)
- Record Type:
- Journal Article
- Title:
- A cystic fibrosis patient homozygous for the nonsense mutation R553X. Issue 10 (October 1991)
- Main Title:
- A cystic fibrosis patient homozygous for the nonsense mutation R553X.
- Authors:
- Bal, J
Stuhrmann, M
Schloesser, M
Schmidtke, J
Reiss, J - Abstract:
- Abstract : A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop codon in exon 11 of the CFTR gene, is moderately severely affected. Clinical and molecular findings are presented.
- Is Part Of:
- Journal of medical genetics. Volume 28:Issue 10(1991)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 28:Issue 10(1991)
- Issue Display:
- Volume 28, Issue 10 (1991)
- Year:
- 1991
- Volume:
- 28
- Issue:
- 10
- Issue Sort Value:
- 1991-0028-0010-0000
- Page Start:
- 715
- Page End:
- 717
- Publication Date:
- 1991-10
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.28.10.715 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 17952.xml