Literature DB >> 1682496

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

J Bal1, M Stuhrmann, M Schloesser, J Schmidtke, J Reiss.   

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.

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Year:  1991        PMID： 1682496      PMCID： PMC1017062          DOI： 10.1136/jmg.28.10.715

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


  7 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.  A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Authors:  H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

4.  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

5.  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

6.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

7.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  7 in total
  13 in total

1.  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

2.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

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

Authors:  M Schloesser; S Arleth; U Lenz; R M Bertele; J Reiss
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.

Authors:  Pratibha Dixit; Shally Awasthi; Nutan Maurya; Sarita Agarwal; M Srinivasan
Journal:  Indian J Clin Biochem       Date:  2013-11-22

5.  Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Authors:  M Desgeorges; M Laussel; B Rollin; J Demaille; M Claustres
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

6.  CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Authors:  K Will; J Reiss; M Dean; M Schlösser; R Slomski; J Schmidtke; M Stuhrmann
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 7.  Recent advances in cystic fibrosis research.

Authors:  R Dinwiddie; O Crawford
Journal:  J R Soc Med       Date:  1993       Impact factor: 5.344

8.  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

9.  Clinical features of cystic fibrosis patients with rare genotypes.

Authors:  G Castaldo; E Rippa; V Raia; D Salvatore; C Massa; G de Ritis; F Salvatore
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

10.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318
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