A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA

Description and clinical data

Miguel Chillón, Teresa Casals, Javier Giménez, Virginia Nunes, Xavier P. Estivill

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 ΔF508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.

Original languageEnglish
Pages (from-to)369-370
Number of pages2
JournalJournal of Medical Genetics
Volume31
Issue number5
Publication statusPublished - May 1994
Externally publishedYes

Fingerprint

Frameshift Mutation
Cystic Fibrosis
Exocrine Pancreatic Insufficiency
Genetic Association Studies
Exons
Parents
Lung
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA : Description and clinical data. / Chillón, Miguel; Casals, Teresa; Giménez, Javier; Nunes, Virginia; Estivill, Xavier P.

In: Journal of Medical Genetics, Vol. 31, No. 5, 05.1994, p. 369-370.

Research output: Contribution to journalArticle

Chillón, Miguel ; Casals, Teresa ; Giménez, Javier ; Nunes, Virginia ; Estivill, Xavier P. / A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA : Description and clinical data. In: Journal of Medical Genetics. 1994 ; Vol. 31, No. 5. pp. 369-370.
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