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Article

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

Chest - 1 Apr 2010

Crossno Peter F, Polosukhin Vasiliy V, Blackwell Timothy S, Johnson Joyce E, Markin Cheryl, Moore Paul E, Worrell John A, Stahlman Mildred T, Phillips John A, Loyd James E, Cogan Joy D, Lawson William E

Abstract excerpt

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation. The father and one daughter (aged 39 years) also had a...

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Topics

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Share to ATP-Binding Cassette Transporters
Share to ABCA3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to SFTPC gene

Share to Lung Diseases, Interstitial

Share to Mutation

Share to Neonatal Respiratory Health Research

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Share to Pulmonary Surfactant-Associated Protein C

Source

Open in PubMed Open full text

Identifiers

PMID: 20371530
DOI: 10.1378/chest.09-0790
PMCID: PMC2851554

Genes

ABCA3
SFTPC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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