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Literature DB >> 2233965

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

G R Cutting¹, L M Kasch, B J Rosenstein, L C Tsui, H H Kazazian, S E Antonarakis.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Year: 1990 PMID： 2233965 DOI： 10.1056/NEJM199012133232407

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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41 in total

Review 1. The biochemical defect in cystic fibrosis.

Authors: A W Cuthbert
Journal: J R Soc Med Date: 1992 Impact factor: 5.344

2. A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Authors: V Nunes; A Bonizzato; A Gaona; M Dognini; M Chillón; T Casals; P F Pignatti; G Novelli; X Estivill; P Gasparini
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

3. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Authors: L Osborne; G Santis; M Schwarz; K Klinger; T Dörk; I McIntosh; M Schwartz; V Nunes; M Macek; J Reiss
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

4. Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

Authors: C R Scriver; T M Fujiwara
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

5. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

Authors: J Cheadle; L al-Jader; M Goodchild; A L Meredith
Journal: J Med Genet Date: 1992-08 Impact factor: 6.318

6. Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors: M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal: Hum Genet Date: 1992-12 Impact factor: 4.132

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Review 1. The biochemical defect in cystic fibrosis.

2. A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

3. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

4. Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

5. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

6. Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

7. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.

8. A cystic fibrosis patient homozygous for the nonsense mutation R553X.

9. A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

Review 10. Spectrum of mutations in cystic fibrosis.