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Article

DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation.

Acta clinica Belgica - 1 Jan 1991

Hendrickx J, Wauters J, Coucke P, Vits L, Van der Auwera B, Willems P J

Abstract excerpt

Cystic fibrosis (CF) is one of the most frequent recessive disorders among Caucasians. DNA analysis is performed by linkage analysis with DNA markers tightly linked to the CF gene. Cloning and sequencing of the cystic fibrosis gene, however, revealed that the major disease mutation is a phenylalanine deletion at amino acid position 508 of the mature protein (delta F508). These recent discoveries open great...

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PMID: 1645913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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