Literature DB >> 1757965

A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.

G Chalkley1, A Harris.   

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Year:  1991        PMID： 1757965      PMCID： PMC1017167          DOI： 10.1136/jmg.28.12.875

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Mutation analysis at the cystic fibrosis locus in the British population.

Authors:  A Harris; F Beards; C Mathew
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Authors:  E Kerem; M Corey; B S Kerem; J Rommens; D Markiewicz; H Levison; L C Tsui; P Durie
Journal:  N Engl J Med       Date:  1990-11-29       Impact factor: 91.245

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

5.  Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; D Bozon; B Kerem; D Markiewicz; P Durie; J M Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

6.  Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Authors:  A J Montandon; P M Green; F Giannelli; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

7.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
  7 in total
  6 in total

1.  Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator.

Authors:  X Xiong; A Bragin; J H Widdicombe; J Cohn; W R Skach
Journal:  J Clin Invest       Date:  1997-09-01       Impact factor: 14.808

2.  Mutation analysis of 184 cystic fibrosis families in Wales.

Authors:  J Cheadle; J Myring; L al-Jader; L Meredith
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

3.  Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

Authors:  C Vazquez; G Antiñolo; T Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; X Estivill
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

4.  Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.

Authors:  A Curtis; R J Richardson; J Boohene; A Jackson; R Nelson; S S Bhattacharya
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

5.  A novel mutation in exon 3 of the CFTR gene.

Authors:  H Guillermit; M Jéhanne; I Quéré; M P Audrézet; B Mercier; C Férec
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

6.  Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Authors:  Katiana Murieli da Rosa; Eliandra da Silveira de Lima; Camila Correia Machado; Thaiane Rispoli; Victória d'Azevedo Silveira; Renata Ongaratto; Talitha Comaru; Leonardo Araújo Pinto
Journal:  J Bras Pneumol       Date:  2018 Nov-Dec       Impact factor: 2.624
  6 in total

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