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9 in total

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

Authors: G R Cutting; L M Kasch; B J Rosenstein; L C Tsui; H H Kazazian; S E Antonarakis
Journal: N Engl J Med Date: 1990-12-13 Impact factor: 91.245

2. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors: B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal: Proc Natl Acad Sci U S A Date: 1990-11 Impact factor: 11.205

3. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Authors: P Gasparini; V Nunes; A Savoia; M Dognini; N Morral; A Gaona; A Bonizzato; M Chillon; F Sangiuolo; G Novelli
Journal: Genomics Date: 1991-05 Impact factor: 5.736

4. A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Authors: L Osborne; R Knight; G Santis; M Hodson
Journal: Am J Hum Genet Date: 1991-03 Impact factor: 11.025

5. Delta F508 gene deletion in cystic fibrosis in southern Europe.

Authors: X Estivill; M Chillon; T Casals; A Bosch; N Morral; V Nunes; P Gasparini; A Seia; P F Pignatti; G Novelli
Journal: Lancet Date: 1989-12-09 Impact factor: 79.321

6. CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

Authors: N Morral; V Nunes; T Casals; X Estivill
Journal: Genomics Date: 1991-07 Impact factor: 5.736

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

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

2. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

3. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

4. A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

5. Delta F508 gene deletion in cystic fibrosis in southern Europe.

6. CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

7. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

8. Analysis of 14 cystic fibrosis mutations in five south European populations.

9. Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.