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Article

Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

Human mutation - 1 Jan 1998

Leoni G B, Pitzalis S, Tonelli R, Cao A

Abstract excerpt

In this paper, we describe a novel CF mutation consisting in a C-->T substitution at nucleotide 170 in exon 1 of CFTR gene, converting a serine residue into phenylalanine at position 12 (S13F) of the CFTR protein. This mutation was detected in a single patient of Sardinian descent in compound heterozygosity with T338I, who presented at 9 years of age with hyponatremic dehydration associated with hypochloremia,...

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Source

Identifiers

PMID: 9554753

Genes

CFTR

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.PMID 9554753Read ↗

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