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Article

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.

European journal of pediatrics - 1 Jun 2008

Yokota Takuya, Matsumura Yoshihiro, Ban Nobuhiro, Matsubayashi Tadashi, Inagaki Nobuya

Abstract excerpt

A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adeno...

Read the complete abstract on PubMed

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Share to ATP-Binding Cassette Transporters
Share to Bronchoalveolar Lavage Fluid
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lung Diseases, Interstitial

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Share to Pulmonary Surfactant-Associated Proteins

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Source

Identifiers

PMID: 17618459
DOI: 10.1007/s00431-007-0542-8

Genes

ABCA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17618459-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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