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Literature DB >> 8064813

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

M Chillón¹, T Casals, J Giménez, V Nunes, X Estivill.

Abstract

We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.

Entities: Disease Gene Mutation Species

Mesh：

Substances：
DNA Primers

Year: 1994 PMID： 8064813 PMCID： PMC1049867 DOI： 10.1136/jmg.31.5.369

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

6 in total

1. Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.

Authors: H SHWACHMAN; L L KULCZYCKI
Journal: AMA J Dis Child Date: 1958-07

2. The systematic evaluation of the chest radiograph in cystic fibrosis.

Authors: A R Chrispin; A P Norman
Journal: Pediatr Radiol Date: 1974

3. A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

Authors: V Nunes; M Chillón; T Dörk; B Tümmler; T Casals; X Estivill
Journal: Hum Mol Genet Date: 1993-01 Impact factor: 6.150

1 in total

1. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors: Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal: J Mol Diagn Date: 2008-06-13 Impact factor: 5.568

1 in total

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

1. Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.

2. The systematic evaluation of the chest radiograph in cystic fibrosis.

3. A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

4. In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator.

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

6. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

1. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.