Mild clinical phenotype associated with R1158X/S549R(T → G) CFTR genotype [1]

Clinical Genetics

Volumn 58, Issue 2, 2000, Pages 147-149

  Frossard, P M ^a   Abdelaziz, S A ^a   Hertecant, J ^a   Girodon, E ^a   Goossens, M ^a   Dawson, K P ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANINE; PANCREAS ENZYME; THYMINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ALLELE; CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; DIARRHEA; ENZYME THERAPY; EXON; EXTRACTION; FECES ANALYSIS; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; INTESTINE OBSTRUCTION; LETTER; LOWER RESPIRATORY TRACT INFECTION; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RECTUM PROLAPSE; VENOUS BLOOD;

EID: 0033839431     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580210.x     Document Type: Letter

References (16)

1. Cystic fibrosis
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4. Cenotype-phenotype correlations in cystic fibrosis: Clinical severity of mutation S549R(T→G)
5. Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R(T----G)
6. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene
7. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish populations: 43 mutations account for only 78% of CF chromosomes
8. Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
9. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
10. Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean
11. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
12. Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterization for patients with homozygote mutations
13. Complex allele [ - 102(T → A) + S549R(T → G)] is associated with milder forms of cystic fibrosis than allele S549R(T → G) alone
14. A rapid, efficient and sensitive assay for simultaneous analysis of multiple cystic fibrosis mutations
15. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients